Developmental disorder	Hereditary disease
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Developmental hereditary disorder (disorder)
	Developmental hereditary disorder
	hereditaire ontwikkelingsstoornis
	erfelijke ontwikkelingsstoornis

Id	363070008
Status	Defined

Pathological process

Pathological developmental process

ICD-10 complex map reference set

Target
Rule	TRUE
Advice	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
Correlation	SNOMED CT source code to target map code correlation not specified

11p15.4 microduplication syndrome

17q11 deletion syndrome

17q11.2 microduplication syndrome

17q23.1-q23.2 duplication syndrome

2p13.2 microdeletion syndrome

2p21 microdeletion syndrome

2p21 microdeletion syndrome without cystinuria

3-M syndrome

3-methylglutaconic aciduria type 9

3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency infantile form

3q27.3 microdeletion syndrome

3q29 microdeletion syndrome

46,XX disorder of sex development with skeletal anomalies syndrome

46,XY disorder of sex development due to isolated 17,20-lyase deficiency

46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency

46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome

46,XY partial gonadal dysgenesis

4H leukodystrophy3

5-amino-4-imidazole carboxamide ribosiduria

7p22.1 microduplication syndrome

8q13 microdeletion syndrome

8q24.3 microdeletion syndrome

Aase syndrome

Ablepharon macrostomia syndrome

Abruzzo Erickson syndrome

Absence of fingerprints with congenital milia syndrome

Absent radius, anogenital anomalies syndrome

Absent thumb with short stature and immunodeficiency syndrome

Absent tibia, polydactyly, arachnoid cyst syndrome

Achalasia microcephaly syndrome

Achondroplasia1

Achromatopsia2

Ackerman syndrome

Acro-oto-ocular syndrome

Acrocallosal syndrome

Acrocapitofemoral dysplasia

Acrocardiofacial syndrome

Acrocephalopolydactyly

Acrocephalopolysyndactyly type II

Acrocephalopolysyndactyly type IV

Acrocephalosyndactyly type I

Acrocephalosyndactyly type V3

Acrocraniofacial dysostosis

Acrodysostosis

Acrofacial dysostosis Catania type

Acrofacial dysostosis Kennedy Teebi type

Acrofacial dysostosis Palagonia type

Acrofacial dysostosis Rodriguez type

Acrofrontofacionasal dysostosis

Acrofrontofacionasal dysostosis type 2

Acrokeratosis verruciformis of Hopf

Acromegaloid facial appearance syndrome

Acromesomelic dysplasia Hunter-Thompson type

Acromesomelic dysplasia Maroteaux type

Acromicric dysplasia

Acropectoral syndrome

Acropectorovertebral dysplasia

Acrorenal mandibular syndrome

Acrorenal syndrome

Acrorenoocular syndrome

Adams-Oliver syndrome

ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome

Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

Agenesis of corpus callosum and abnormal genitalia syndrome

Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

Agnathia, holoprosencephaly, situs inversus syndrome

Allan-Herndon-Dudley syndrome

Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

Alopecia, contracture, dwarfism, intellectual disability syndrome

Alopecia, epilepsy, intellectual disability syndrome Moynahan type

Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections

Alopecia, progressive neurological defect, endocrinopathy syndrome

Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome

Alpha-thalassemia intellectual disability syndrome linked to chromosome 16

Alstrom syndrome

Amaurosis hypertrichosis syndrome

Amelo-onycho-hypohidrotic syndrome

Amelogenesis imperfecta13

Amish lethal microcephaly

Andersen Tawil syndrome

Aneurysm osteoarthritis syndrome

Angel-shaped phalangoepiphyseal dysplasia

Aniridia and absent patella syndrome

Aniridia and intellectual disability syndrome

Aniridia, ptosis, intellectual disability, familial obesity syndrome

Aniridia, renal agenesis, psychomotor retardation syndrome

Ankylosing vertebral hyperostosis with tylosis syndrome

Anonychia with microcephaly syndrome

Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome

Anophthalmia plus syndrome

Antecubital pterygium syndrome

Anterior maxillary protrusion, strabismus, intellectual disability syndrome

Antley-Bixler syndrome

Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome

Aphalangy and syndactyly with microcephaly syndrome

Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome

Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome

Aplasia cutis congenita with epibulbar dermoid syndrome

Aplasia cutis congenita with intestinal lymphangiectasia syndrome

Aplasia cutis with myopia syndrome

Aplasia of lacrimal and salivary gland

Arterial dissection and lentiginosis syndrome

Arteriohepatic dysplasia

Arts syndrome

Ash leaf spot, tuberous sclerosis

Asymmetric crying face association

Ataxia with deafness and intellectual disability syndrome

Ataxia-telangiectasia syndrome

Atelosteogenesis3

Athabaskan brainstem dysgenesis syndrome

Atkin Flaitz syndrome

Atrial septal defect, atrioventricular conduction defect syndrome

Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome

Atypical hypotonia cystinuria syndrome

Atypical Rett syndrome

Auriculo-condylar syndrome

Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autism spectrum disorder due to AUTS2 deficiency

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant centronuclear myopathy

Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation

Autosomal dominant familial woolly hair Autosomal dominant familial wooly hair

Autosomal dominant hypohidrotic ectodermal dysplasia syndrome

Autosomal dominant hypophosphatemic bone disease2

Autosomal dominant mandibular prognathism

Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Autosomal dominant polycystic liver disease

Autosomal dominant popliteal pterygium syndrome

Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

Autosomal dominant primary microcephaly

Autosomal dominant spondylocostal dysostosis

Autosomal recessive amelia

Autosomal recessive asexual dwarfism

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive chorioretinopathy and microcephaly syndrome

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation

Autosomal recessive distal osteolysis syndrome

Autosomal recessive dysgenesis of anterior segment of eye

Autosomal recessive facio-digito-genital syndrome

Autosomal recessive familial wooly hair Autosomal recessive familial woolly hair3

Autosomal recessive frontotemporal pachygyria

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome

Autosomal recessive popliteal pterygium syndrome

Autosomal recessive primary microcephaly

Axenfeld anomaly

Ballard syndrome

Baller-Gerold syndrome

Bamforth Lazarus syndrome

Banki syndrome

Bardet-Biedl syndrome

Basel Vanagaite Smirin Yosef syndrome

Beckwith-Wiedemann syndrome

Beemer Ertbruggen syndrome

Benign congenital myopathy1

Beta-D-mannosidosis

Bifid nose2

Bilateral frontoparietal polymicrogyria

Bilateral microtia with deafness and cleft palate syndrome

Blepharocheilodontic syndrome

Blepharonasofacial malformation syndrome

Blepharophimosis, intellectual disability syndrome, Verloes type

Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

Blepharoptosis, myopia, ectopia lentis syndrome

Blomstrand dysplasia

Blue cone monochromatism

Boder syndrome

Boichis syndrome

Bone dysplasia lethal Holmgren type

Book syndrome

Borjeson-Forssman-Lehmann syndrome

Bosley Salih Alorainy syndrome

Bowen-Conradi syndrome

Brachydactyly and arterial hypertension syndrome

Brachydactyly and distal symphalangism syndrome

Brachydactyly and preaxial hallux varus syndrome

Brachydactyly syndrome type B1

Brachydactyly type A1

Brachydactyly type A2

Brachydactyly type A3

Brachydactyly type A4

Brachydactyly type A5

Brachydactyly type A6

Brachydactyly type B2

Brachydactyly type D

Brachydactyly with syndactyly Zhao type

Brachydactyly, short stature, retinitis pigmentosa syndrome

Brachymorphism with onychodysplasia and dysphalangism syndrome

Brachyolmia4

Brachytelephalangic chondrodysplasia punctata

Brachytelephalangy, facial dysmorphism, Kallmann syndrome

Braddock syndrome

Brain calcification Rajab type

Branchial dysplasia, intellectual disability, inguinal hernia syndrome

Branchiogenic deafness syndrome

Branchiooculofacial syndrome

Branchiootic syndrome

BRESEK syndrome

BSG syndrome

Bullous dystrophy macular type

CACP syndrome

CAMOS syndrome

Campomelia Cumming type

Camptodactyly and tall stature with scoliosis and hearing loss syndrome

Camptodactyly syndrome Guadalajara type 1

Camptodactyly syndrome Guadalajara type 2

Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome

Capillary malformation-arteriovenous malformation syndrome

Cardiac anomaly and heterotaxy syndrome

Cardiocranial syndrome Pfeiffer type

Cardiomyopathy and renal anomaly syndrome

Cardiospondylocarpofacial syndrome

Carney complex

Carpotarsal osteochondromatosis

CASK related intellectual disability

Cataract and microcornea syndrome

Cataract glaucoma syndrome

Cataract, congenital heart disease, neural tube defect syndrome

Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome

Catel Manzke syndrome

Cenani Lenz syndrome

Central core disease2

Cerebellar ataxia and ectodermal dysplasia

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

Cerebellum agenesis with hydrocephaly

Cerebral ventriculomegaly, cystic kidney disease

Cerebro-facio-thoracic dysplasia

Cerebrofacioarticular syndrome

Cerebrooculonasal syndrome

Cervical hypertrichosis and peripheral neuropathy syndrome

Char syndrome

Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome

Chitty Hall Baraitser syndrome

Choanal atresia with radial ray hypoplasia

Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome

Chondrodysplasia punctata Toriello type

Chondrodysplasia punctata, X-linked dominant type

Chondrodysplasia punctata, X-linked recessive type

Chondrodysplasia with disorder of sex development syndrome

Chondrodysplasia with joint dislocations gPAPP type

Choroideremia with deafness and obesity syndrome

Christianson syndrome

Chromosome Xp11.3 microdeletion syndrome

Chromosome Xq27.3q28 duplication syndrome

Chudley McCullough syndrome

CK syndrome

Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome

Cleft lip retinopathy syndrome

Cleft palate with short stature and vertebral anomaly syndrome

Cleft palate, large ears, small head syndrome

Cleidocranial dysostosis

Cleidorhizomelic syndrome

Cloverleaf skull with multiple congenital anomalies syndrome

Cobblestone lissencephaly without muscular or ocular involvement

Cockayne syndrome4

CODAS syndrome

Cohen syndrome

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome

Colobomatous macrophthalmia with microcornea syndrome

Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome

Colobomatous microphthalmia, rhizomelic dysplasia syndrome

Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome

Combined immunodeficiency with faciooculoskeletal anomalies syndrome

Combined immunodeficiency, enteropathy spectrum

Combined oxidative phosphorylation defect type 23

Complex lethal osteochondrodysplasia

Conductive deafness, ptosis, skeletal anomalies syndrome

Congenital adrenal hyperplasia20

Congenital adrenal hypoplasia, X-linked

Congenital blue dot cataract

Congenital cataract with ataxia and deafness syndrome

Congenital cataract with deafness and hypogonadism syndrome

Congenital cataract with hypertrichosis and intellectual disability syndrome

Congenital cataract, hearing loss, severe developmental delay syndrome

Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome

Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome

Congenital cataracts, facial dysmorphism and neuropathy

Congenital cerebellar ataxia due to RNU12 mutation

Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration

Congenital deafness with labyrinthine aplasia, microtia and microdontia

Congenital dystrophia brevicollis

Congenital fiber-type disproportion myopathy due to ACTA1 mutation2

Congenital fiber-type disproportion myopathy due to MYH7 mutation

Congenital fiber-type disproportion myopathy due to TPM3 mutation2

Congenital fiber-type disproportion myopathy due to ZAK mutation

Congenital hereditary endothelial dystrophy3

Congenital hereditary facial paralysis with variable hearing loss syndrome

Congenital hereditary nail dystrophy

Congenital Horner syndrome

Congenital hypoplasia of ulna and intellectual disability syndrome

Congenital hypoplasia of ulna and split foot syndrome

Congenital ichthyosis of skin19

Congenital intrauterine infection-like syndrome

Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome

Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome

Congenital myopathy with internal nuclei and atypical cores

Congenital myopathy with myasthenic-like onset

Congenital nephrotic syndrome3

Congenital neutropenia, myelofibrosis, nephromegaly syndrome

Congenital pontocerebellar hypoplasia type 1

Congenital pontocerebellar hypoplasia type 10

Congenital pontocerebellar hypoplasia type 2

Congenital pontocerebellar hypoplasia type 3

Congenital pontocerebellar hypoplasia type 4

Congenital pontocerebellar hypoplasia type 5

Congenital pontocerebellar hypoplasia type 6

Congenital pontocerebellar hypoplasia type 7

Congenital pontocerebellar hypoplasia type 8

Congenital pontocerebellar hypoplasia type 9

Congenital short costocoracoid ligament

Congenital stationary night blindness1

Congenital sutural cataract

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Cono-spondylar dysplasia

Cooks syndrome

Cooper Jabs syndrome

Coralliform cataract

Cortical blindness, intellectual disability, polydactyly syndrome

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Cortical dysplasia with focal epilepsy syndrome

Coxoauricular syndrome

Coxopodopatellar syndrome

Craniodiaphyseal dysplasia

Craniodigital syndrome and intellectual disability syndrome

Craniofacial conodysplasia syndrome

Craniofacial deafness hand syndrome

Craniofacial dysplasia osteopenia syndrome

Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome

Craniofacial dyssynostosis syndrome

Craniofacial ulnar renal syndrome

Craniofrontonasal dysplasia

Craniolenticulosutural dysplasia

Craniomicromelic syndrome

Cranioosteoarthropathy

Craniosynostosis and dental anomalies syndrome

Craniosynostosis and intracranial calcification syndrome

Craniosynostosis Boston type

Craniosynostosis fibular aplasia syndrome

Craniosynostosis Philadelphia type

Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome

Craniosynostosis, anal anomaly, porokeratosis syndrome

Crisponi syndrome

Crome syndrome

Crouzon syndrome1

Cryptomicrotia brachydactyly syndrome

Cryptophthalmos syndrome

Curly hair, acral keratoderma, caries syndrome

Curry-Hall syndrome

Cutis gyrata syndrome of Beare and Stevenson

Cyprus facial neuromusculoskeletal syndrome

Cystic fibrosis with gastritis and megaloblastic anemia syndrome

Cystic leukoencephalopathy without megalencephaly

Czech dysplasia metatarsal type

Dacryocystitis and osteopoikilosis syndrome

Dandy-Walker malformation with postaxial polydactyly syndrome

Deaf blind hypopigmentation syndrome Yemenite type

Deafness and intellectual disability Martin Probst type syndrome

Deafness craniofacial syndrome

Deafness with onychodystrophy syndrome2

Deafness, enamel hypoplasia, nail defect syndrome

Deafness, vitiligo, achalasia syndrome

Deafness-dystonia-optic neuronopathy syndrome

Dentin dysplasia5

Dentinogenesis imperfecta9

Dermatoleukodystrophy

Dermatoosteolysis Kirghizian type

Dermo-odonto dysplasia

Desbuquois syndrome

Desmin-related myofibrillar myopathy

Desmosterolosis

Developmental absence of tooth12

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay with autism spectrum disorder and gait instability

Developmental delay, facial dysmorphism syndrome due to MED13L deficiency

Developmental malformation, deafness, dystonia syndrome

Diaphanospondylodysostosis

Diaphragmatic defect, limb deficiency, skull defect syndrome

Diaphyseal dysplasia

Diastrophic dysplasia

Diencephalic mesencephalic junction dysplasia

Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome

Digital extensor muscle aplasia with polyneuropathy

Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome

Dislocation of hip and facial dysmorphism syndrome

Distal limb deficiency with micrognathia syndrome

Distal Xq28 microduplication syndrome

DK phocomelia syndrome

Doughnut lesion of calvaria and bone fragility syndrome

Drash syndrome

Duane anomaly, myopathy, scoliosis syndrome

Duane retraction syndrome with congenital deafness

Dubin-Johnson syndrome

Duplication of eyebrow and syndactyly syndrome

Dyggve-Melchior-Clausen syndrome

Dyschondrosteosis and nephritis syndrome

Dyskeratosis congenita3

Dysmorphic sialidosis, congenital form

Dysmorphism, short stature, deafness, disorder of sex development syndrome

Dysostosis multiplex group7

Dysplasia epiphysealis hemimelica

Dyssegmental dysplasia Silverman Handmaker type

Ear, patella, short stature syndrome

Early onset parkinsonism and intellectual disability syndrome

Early-onset calcifying leukoencephalopathy, skeletal dysplasia

Early-onset epilepsy, intellectual disability, brain anomalies syndrome

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome

Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome

Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome

Ectodermal dysplasia and sensorineural deafness syndrome

Ectodermal dysplasia syndactyly syndrome

Ectodermal dysplasia trichoodontoonychial type

Ectodermal dysplasia with blindness syndrome

Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome

Ectodermal dysplasia with natal teeth Turnpenny type

Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome

Ectopia lentis et pupillae

Ectopia lentis, chorioretinal dystrophy, myopia syndrome

Ectrodactyly polydactyly syndrome

EDICT syndrome

Edinburgh malformation syndrome

Ehlers-Danlos syndrome19

Emery Nelson syndrome

Encephalopathy due to mitochondrial and peroxisomal fission defect

Encephalopathy, intracerebral calcification, retinal degeneration syndrome

Endocrine-cerebro-osteodysplasia syndrome

Enlarged parietal foramina

Epibulbar lipodermoid, preauricular appendage, polythelia syndrome

Epidermolysis bullosa3

Epilepsy telangiectasia syndrome

Epilepsy, microcephaly, skeletal dysplasia syndrome

Epileptic encephalopathy with global cerebral demyelination

Exostosis, anetoderma, brachydactyly type E syndrome

Extensor tendons of finger anomalies

External auditory canal atresia, vertical talus, hypertelorism syndrome

Eye defects, arachnodactyly, cardiopathy syndrome

Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome

Facial dysmorphism, conductive hearing loss, heart defect syndrome

Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome

Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome

Faciocardiorenal syndrome

Fallot complex with intellectual disability and growth delay syndrome

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

Familial adrenocortical hypoplasia

Familial bicuspid aortic valve1

Familial caudal dysgenesis

Familial cavitary optic disc anomaly

Familial congenital nasolacrimal duct obstruction

Familial digital arthropathy and brachydactyly syndrome

Familial generalized lentiginosis

Familial infantile gigantism1

Familial isolated congenital asplenia

Familial isolated trichomegaly

Familial male-limited precocious puberty

Familial median cleft of upper and lower lip

Familial omphalocele syndrome with facial dysmorphism

Familial patent arterial duct

Familial penile hypospadias

Familial progressive hyper and hypopigmentation

Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome

Familial scaphocephaly syndrome McGillivray type

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Familial thoracic aortic aneurysm and aortic dissection

Familial vesicoureteral reflux

Familial x-linked hypophosphatemic vitamin D refractory rickets1

Fanconi's anemia1

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Fatal congenital nonlysosomal heart glycogenosis

Female restricted epilepsy with intellectual disability syndrome

Fetal encasement syndrome

FGFR2-related bent bone dysplasia

Fibrochondrogenesis

Fibrous skin tumor of tuberous sclerosis

Fibular aplasia and complex brachydactyly

Fibular aplasia and ectrodactyly syndrome

Filippi syndrome

Fine Lubinsky syndrome

Flat face, microstomia, ear anomaly syndrome

Floating-Harbor syndrome

Focal dermal hypoplasia

Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome

Focal facial dermal dysplasia type I

Focal facial dermal dysplasia type II

Focal facial dermal dysplasia type IV

Fountain syndrome

Foveal hypoplasia with presenile cataract syndrome

Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome

FOXG1 syndrome

Fragile X syndrome

Francois syndrome

Frank-Ter Haar syndrome

FRAXE intellectual disability syndrome

Fried syndrome

Frontonasal dysplasia with alopecia and genital anomaly syndrome

Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome

Gabriele-de Vries syndrome

Galloway Mowat syndrome

Game Friedman Paradice syndrome

GAPO syndrome

Gardner syndrome

GCGR-related hyperglucagonemia

GEMSS syndrome

Genitopalatocardiac syndrome

Genitopatellar syndrome

Genochondromatosis type 1

Genochondromatosis type 2

Geroderma osteodysplastica

Ghosal hematodiaphyseal dysplasia

Gingival fibromatosis with facial dysmorphism syndrome

Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome

Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome

Glomuvenous malformation

Glycogenosis with glucoaminophosphaturia

GMS syndrome

Gnathodiaphyseal dysplasia

Goldberg Shprintzen megacolon syndrome

Goldblatt Wallis syndrome

Goldenhar syndrome

Gollop syndrome

Gollop Wolfgang complex

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

Gorlin-Chaudhry-Moss syndrome

Grant syndrome

Grebe syndrome

Growth delay due to insulin-like growth factor I resistance

Growth delay, intellectual disability, hepatopathy syndrome

Growth retardation, intellectual developmental disorder and hepatopathy syndrome

Growth retardation, mild developmental delay, chronic hepatitis syndrome

Grubben, De Cock, Borghgraef syndrome

Guttmacher syndrome

Haim Munk syndrome

Hair defect with photosensitivity and intellectual disability syndrome

Hallux varus, preaxial polysyndactyly syndrome

Hand-foot-genital syndrome

Hartsfield syndrome

Haspeslagh Fryns Muelenaere syndrome

Heart defect and limb shortening syndrome

Heart-hand syndrome Slovenian type

Heide syndrome

Hemifacial hyperplasia strabismus syndrome

Hennekam Beemer syndrome

Hereditary acantholytic dermatosis3

Hereditary benign intraepithelial dyskeratosis

Hereditary camptodactyly2

Hereditary clubbing

Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome

Hereditary cryohydrocytosis with reduced stomatin

Hereditary elliptocytosis9

Hereditary hypotrichosis with recurrent skin vesicles syndrome

Hereditary inclusion body myopathy type 4

Hereditary isolated aplastic anemia

Hereditary lymphedema20

Hereditary mucoepithelial dysplasia

Hereditary neurocutaneous angiomata

Hereditary progressive muscular dystrophy11

Hereditary splenic hypoplasia

Hereditary vascular fragility

Hidrotic ectodermal dysplasia Christianson Fourie type

Hidrotic ectodermal dysplasia Halal type

Hidrotic ectodermal dysplasia syndrome

High bone mass osteogenesis imperfecta

Hirschsprung disease with deafness and polydactyly syndrome

Hirschsprung disease with nail hypoplasia and dysmorphism

Hirschsprung disease with type D brachydactyly syndrome

Holoprosencephaly and postaxial polydactyly syndrome

Holt-Oram syndrome

Holzgreve syndrome

Hunter McAlpine craniosynostosis syndrome

Hydrocephalus with obesity and hypogonadism syndrome

Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

Hydrocephalus, tall stature, joint laxity syndrome

Hydrolethalus syndrome

Hyperekplexia epilepsy syndrome

Hypergonadotropic hypogonadism with cataract syndrome

Hyperphosphatasemia with intellectual disability

Hypertelorism Teebi type

Hypertelorism with microtia and facial clefting syndrome

Hypertelorism, preauricular sinus, punctual pits, deafness syndrome

Hypertrichosis cubiti

Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities

Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome

Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome

Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

Hypohidrotic X-linked ectodermal dysplasia

Hypomandibular faciocranial dysostosis

Hypoplasia and coloboma of alar cartilage with telecanthus syndrome

Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome

Hypoplastic tibia and postaxial polydactyly syndrome

Hypotonia, speech impairment, severe cognitive delay syndrome

Hypotrichosis and intellectual disability syndrome Lopes type

Hypotrichosis with juvenile macular degeneration syndrome

Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome

Immotile cilia syndrome5

Inclusion body myopathy 2

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

Incontinentia pigmenti syndrome

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile choroidocerebral calcification syndrome

Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome

Infantile inflammatory bowel disease with neurological involvement

Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome

Infundibulopelvic stenosis multicystic kidney syndrome

Inherited arthrogryposis29

Inherited cutaneous hyperpigmentation12

Inherited cutis laxa8

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Inherited renal tubule insufficiency with cholestatic jaundice

Intellectual disability Buenos Aires type

Intellectual disability with cataract and kyphosis syndrome

Intellectual disability with strabismus syndrome

Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome

Intellectual disability, cataract, calcified pinna, myopathy syndrome

Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome

Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome

Intellectual disability, epilepsy, bulbous nose syndrome

Intellectual disability, epilepsy, extrapyramidal syndrome

Intellectual disability, expressive aphasia, facial dysmorphism syndrome

Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency

Intellectual disability, facial dysmorphism, hand anomalies syndrome

Intellectual disability, hyperkinetic movement, truncal ataxia syndrome

Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome

Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome

Intellectual disability, myopathy, short stature, endocrine defect syndrome

Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome

Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome

Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome

Intellectual disability, spasticity, ectrodactyly syndrome

Intestinal epithelial dysplasia

Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome

Isolated anterior cervical hypertrichosis

Isolated congenital adermatoglyphia

Isolated congenital megalocornea

Isolated cryptophthalmos

Isolated hereditary congenital facial paralysis

Isolated optic nerve hypoplasia

Isolated osteopoikilosis

Isolated right ventricular hypoplasia

Isomerism of right atrial appendage

Isotretinoin-like syndrome

Jackson-Weiss syndrome

Jarcho-Levin syndrome

Jawad syndrome

Jervell and Lange-Nielsen syndrome

Jeune thoracic dystrophy1

Johnson neuroectodermal syndrome

Joubert syndrome6

Juberg Hayward syndrome

Juvenile cataract, microcornea, renal glucosuria syndrome

Kabuki make-up syndrome

Kallman syndrome with heart disease

Kapur Toriello syndrome

Karandikar Maria Kamble syndrome

Karsch Neugebauer syndrome

Kawashima Tsuji syndrome

KBG syndrome

Keipert syndrome

Keppen Lubinsky syndrome

Keutel syndrome

King Denborough syndrome

Kleefstra syndrome

Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome

Kniest dysplasia

Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome

Koolen De Vries syndrome

L1 syndrome2

Laron syndrome with immunodeficiency

Laron-type isolated somatotropin defect2

Larsen syndrome

Laryngeal abductor paralysis with intellectual disability syndrome

Laurence-Moon syndrome

Lelis syndrome

Lenz microphthalmia syndrome

Leprechaunism syndrome

Lethal arteriopathy syndrome due to fibulin-4 deficiency

Lethal brain and heart developmental defects syndrome

Lethal faciocardiomelic dysplasia

Lethal hemolytic anemia and genital anomaly syndrome

Lethal Kniest-like syndrome

Lethal Larsen-like syndrome

Lethal occipital encephalocele, skeletal dysplasia syndrome

Lethal omphalocele with cleft palate syndrome

Lethal polymalformative syndrome Boissel type

Lethal recessive chondrodysplasia

Lethal tight skin contracture syndrome

Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome

Leydig cell agenesis3

Liebenberg syndrome

LIG4 syndrome

Limb mammary syndrome

Lipodystrophy, intellectual disability, deafness syndrome

Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation

Lissencephaly syndrome Norman Roberts type

Lissencephaly type 1 due to doublecortin gene mutation

Lissencephaly type 3 familial fetal akinesia sequence syndrome

Lissencephaly type 3 metacarpal bone dysplasia syndrome

Long thumb brachydactyly syndrome

Lowe syndrome

Lowry MacLean syndrome

Lowry Yong syndrome

Lung agenesis with heart defect and thumb anomaly syndrome

Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome

Lymphedema and cerebral arteriovenous anomaly syndrome

MacDermot Winter syndrome

Macrocephaly and developmental delay syndrome

Macrocephaly, intellectual disability, autism syndrome

Macrocephaly, intellectual disability, left ventricular non compaction syndrome

Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome

Macrosomia, microphthalmia, cleft palate syndrome

Macrostomia, preauricular tag, external ophthalmoplegia syndrome

Macular coloboma, cleft palate, hallux valgus syndrome

Macular corneal dystrophy5

Majeed syndrome

Malan overgrowth syndrome

Male emopamil-binding protein disorder with neurological defect

Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

Mammary digital nail syndrome

Mandibular hypoplasia, deafness, progeroid syndrome

Mandibuloacral dysostosis2

Manitoba oculotrichoanal syndrome

MARCH syndrome

Marfanoid habitus with autosomal recessive intellectual disability syndrome

Marfanoid syndrome De Silva type

Marie Unna syndrome

Marinesco-Sjögren syndrome

Maroteaux-Lamy syndrome3

Marshall-Smith syndrome

Matthew Wood syndrome

McKusick Kaufman syndrome

Megacystis, microcolon, hypoperistalsis syndrome

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephaly capillary malformation

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

Megalocornea with intellectual disability syndrome

Megalocornea, spherophakia, secondary glaucoma syndrome

Mehes syndrome

MEHMO syndrome

Melnick-Fraser syndrome

Melorheostosis with osteopoikilosis

Menke-Hennekam syndrome

Menkes kinky-hair syndrome

Mesoaxial synostotic syndactyly with phalangeal reduction syndrome

Mesomelic dysplasia Kantaputra type

Metachondromatosis

Metaphyseal chondrodysplasia, McKusick type

Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria

Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

Metaphyseal dysplasia Braun Tinschert type

Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome

Microbrachycephaly, ptosis, cleft lip syndrome

Microcephalic cortical malformations, short stature due to RTTN deficiency

Microcephalic osteodysplastic dysplasia Saul Wilson type

Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism types I and III

Microcephalic primordial dwarfism Alazami type

Microcephalic primordial dwarfism Dauber type

Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism Toriello type

Microcephalic primordial dwarfism, insulin resistance syndrome

Microcephalus cardiomyopathy syndrome

Microcephalus cleft palate syndrome

Microcephalus with brachydactyly and kyphoscoliosis syndrome

Microcephalus with cardiac defect and lung malsegmentation syndrome

Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome

Microcephalus, complex motor and sensory axonal neuropathy syndrome

Microcephalus, glomerulonephritis, marfanoid habitus syndrome

Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

Microcephalus, lymphedema, chorioretinopathy syndrome

Microcephaly with cervical spine fusion anomaly

Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome

Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome

Microcephaly, polymicrogyria, corpus callosum agenesis syndrome

Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome

Microcephaly, thin corpus callosum, intellectual disability syndrome

Microcephaly-capillary malformation syndrome

Microcornea with corectopia and macular hypoplasia syndrome

Microcornea with glaucoma and absent frontal sinus syndrome

Microcornea, myopic chorioretinal atrophy, telecanthus syndrome

Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome

Microlissencephaly micromelia syndrome

Microphthalmia with ankyloblepharon and intellectual disability syndrome

Microphthalmia with brain and digit anomaly

Microphthalmia with brain atrophy syndrome

Microphthalmia with linear skin defect syndrome

Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome

Microspherophakia with metaphyseal dysplasia syndrome

Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis

MIRAGE syndrome

Mirror hands and feet co-occurrent with nasal defect

Mohr syndrome

MOMO syndrome

Morava Mehes syndrome

MORM syndrome

Mowat-Wilson syndrome1

Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome

Muenke syndrome

Mullerian aplasia1

Mullerian duct and limb anomalies syndrome

Multicentric carpotarsal osteolysis syndrome

Multicentric osteolysis nodulosis arthropathy spectrum

Multinodular goiter, cystic kidney, polydactyly syndrome

Multiple congenital anomalies, hypotonia, seizures syndrome

Multiple congenital anomalies, hypotonia, seizures syndrome type 2

Multiple congenital exostosis15

Multiple gastrointestinal atresias

Multiple lentigines syndrome

Multiple pterygium syndrome3

Multisystemic smooth muscle dysfunction syndrome

Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital problems, enteropathy syndrome

Myhre syndrome

N syndrome

Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome

Nail-patella syndrome

Nance-Horan syndrome

Nasopalpebral lipoma coloboma syndrome

Nathalie syndrome

Native American myopathy

Neonatal Marfan syndrome

Nephrosis, deafness, urinary tract, digital malformation syndrome

Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome

Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

Neuroectodermal melanolysosomal disease

Neurofaciodigitorenal syndrome

Neuronal ceroid lipofuscinosis 8

Nicolaides-Baraitser syndrome

Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome

Non-progressive cerebellar ataxia with intellectual disability

Non-specific syndromic intellectual disability1

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Noonan syndrome-like disorder with loose anagen hair

Noonan's syndrome

NPHP3-related Meckel-like syndrome

Occipital pachygyria and polymicrogyria

Ocular anomalies, axonal neuropathy, developmental delay syndrome

Ocular motor apraxia Cogan type

Oculo-palato-digital syndrome

Oculoauricular syndrome Schorderet type

Oculocerebral hypopigmentation syndrome of Preus type

Oculocerebrofacial syndrome Kaufman type

Oculofaciocardiodental syndrome

Oculogastrointestinal muscular dystrophy

Oculoosteocutaneous syndrome

Oculootoradial syndrome

Oculopalatocerebral syndrome

Oculotrichodysplasia

Odonto-tricho-ungual-digito-palmar syndrome

Odontotrichomelic syndrome

Ohdo syndrome, Maat-Kievit-Brunner type

Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

Oligohydramnios sequence1

Oliver McFarlane syndrome

Oliver syndrome

Omodysplasia2

Ophthalmo-acromelic syndrome

Ophthalmomandibulomelic dysplasia

Opitz-Frias syndrome

Optic atrophy, intellectual disability syndrome

Oro-facial digital syndrome type 14

Oro-facial digital syndrome type 5

Oro-facial digital syndrome type 8

Oro-facial digital syndrome type 9

Orofacial-digital syndrome III

Orofacial-digital syndrome IV

Osler hemorrhagic telangiectasia syndrome2

Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome

Osteocraniostenosis

Osteofibrous dysplasia

Osteogenesis imperfecta type 5

Osteogenesis imperfecta type I2

Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

Osteopenia, intellectual disability, sparse hair syndrome

Osteopetrosis10

Osteoporosis and oculocutaneous hypopigmentation syndrome

Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

Osteosclerosis3

Osteosclerosis, developmental delay, craniosynostosis syndrome

Oto-onycho-peroneal syndrome

Otopalatodigital syndrome spectrum disorder5

Otospondylomegaepiphyseal dysplasia

Overgrowth, macrocephaly, facial dysmorphism syndrome

Pachygyria, intellectual disability, epilepsy syndrome

Pachyonychia congenita syndrome2

Pallister W syndrome

Palmoplantar hyperkeratosis sclerodactyly syndrome

Palmoplantar keratoderma with clinodactyly syndrome

Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome

Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome

Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome

Pancytopenia with developmental delay syndrome

Papillon-Lefèvre syndrome

Parastremmatic dwarfism

Parietal foramina with clavicular hypoplasia

Partial androgen insensitivity syndrome1

Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome

Partial pancreatic agenesis

Partington syndrome

Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome

Patterson Stevenson Fontaine syndrome

Pelizaeus-Merzbacher disease8

Pelvis shoulder dysplasia

Pelviscapular dysplasia

Pendred's syndrome

Peripheral dysostosis

Periventricular nodular heterotopia

Perlman syndrome

Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome

Perniola Krajewska Carnevale syndrome

Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome

Persistent Müllerian duct syndrome

Peters plus syndrome

Pettigrew syndrome

PHAVER syndrome

Phosphoribosylpyrophosphate synthetase superactivity

Piebald trait with neurologic defects syndrome

Piebaldism

Pierpont syndrome

Pierre Robin sequence faciodigital anomaly syndrome

Pierson syndrome

Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome

Pili torti onychodysplasia syndrome

Pili torti-deafness syndrome

Pilodental dysplasia, refractive errors syndrome

Pitt-Hopkins syndrome

PLAA-associated neurodevelopmental disorder

PMP22-RAI1 contiguous gene duplication syndrome

Poikiloderma, alopecia, retrognathism, cleft palate syndrome

Polycystic kidney disease, infantile type

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Polydactyly myopia syndrome

Polydactyly of biphalangeal thumb

Polydactyly of index finger

Polydactyly of triphalangeal thumb1

Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

Polymicrogyria due to TUBB2B mutation

Polymicrogyria with optic nerve hypoplasia

Polysyndactyly and cardiac malformation syndrome

Polyvalvular heart disease syndrome

Porencephaly, microcephaly, bilateral congenital cataract syndrome

Postaxial polydactyly type A1

Postaxial polydactyly type B1

Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome

Postaxial polydactyly, dental, vertebral anomalies syndrome

Postaxial tetramelic oligodactyly

Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome

PPM-X syndrome

Preaxial polydactyly, colobomata, intellectual disability syndrome

Prieto Badia Mulas syndrome

Primary ciliary dyskinesia and retinitis pigmentosa syndrome

Primary failure of tooth eruption

Primary immunodeficiency syndrome due to p14 deficiency

Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome

Progeroid and marfanoid aspect, lipodystrophy syndrome

Progressive cerebello-cerebral atrophy

Progressive deafness with stapes fixation

Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome

Proteus syndrome1

Prune belly syndrome2

PRUNE1-related neurological syndrome

Pseudodiastrophic dysplasia

Pseudohypoparathyroidism type I A

Pseudoprogeria syndrome

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

PTEN hamartoma tumor syndrome4

Pterygium colli with intellectual disability and digital anomaly syndrome

Ptosis and vocal cord paralysis syndrome

Ptosis, strabismus, ectopic pupil syndrome

Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome

Puerto Rican infant hypotonia syndrome

Pulmonary tuberous sclerosis

Pyknoachondrogenesis

Pyle metaphyseal dysplasia

RAB18 deficiency2

Radial aplasia-thrombocytopenia syndrome

Radio-renal syndrome

Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

Raine dysplasia

Ramos Arroyo syndrome

RAPADILINO syndrome

Rare non-syndromic intellectual disability

Reardon Hall Slaney syndrome

Recessive aplasia cutis congenita of limbs

Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome

Reinhardt Pfeiffer mesomelic dysplasia

Renal coloboma syndrome

Renal hepatic pancreatic dysplasia

Renpenning syndrome

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

Retinal degeneration, nanophthalmos, glaucoma syndrome

Retinal detachment and occipital encephalocele

Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome

Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome

Retinitis pigmentosa-deafness syndrome4

Rhizomelic chondrodysplasia punctata syndrome3

Rhizomelic syndrome Urbach type

RHYNS syndrome

Richieri Costa-da Silva syndrome

RIDDLE syndrome

Rieger syndrome

Roberts-SC phocomelia syndrome

Robinow syndrome2

Roifman syndrome

Rolandic epilepsy, speech dyspraxia syndrome

Rolland-Debuqois syndrome

Rothmund-Thomson syndrome2

Rubinstein-Taybi syndrome1

Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome

Saethre-Chotzen syndrome

Saito Kuba Tsuruta syndrome

Saldino-Mainzer dysplasia

Sanjad Sakati syndrome

Scalp defect postaxial polydactyly syndrome

Scalp, ear, nipple syndrome

Schilbach Rott syndrome

Schimke immuno-osseous dysplasia

Schinzel phocomelia syndrome

Schinzel-Giedion syndrome

Schmitt Gillenwater Kelly syndrome

Scholte syndrome

Schwartz-Jampel syndrome

Seckel syndrome

Seemanova Lesny syndrome

Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

Seizures and intellectual disability due to hydroxylysinuria

Seizures, scoliosis, macrocephaly syndrome

Sellars Beighton syndrome

SERKAL syndrome

Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome

Severe dermatitis, multiple allergies, metabolic wasting syndrome

Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome

Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome

Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

Severe intellectual disability and progressive spastic paraplegia

Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome

Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome

Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome

Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome

Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome

Severe myopia, generalized joint laxity, short stature syndrome

Severe neonatal onset encephalopathy with microcephaly

Severe oculo-renal-cerebellar syndrome

Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome

Severe X-linked intellectual disability Gustavson type

Severe X-linked myotubular myopathy

Short fifth metacarpal insulin resistance syndrome

Short rib polydactyly syndrome4

Short stature due to growth hormone secretagogue receptor deficiency

Short stature due to primary acid labile subunit deficiency

Short stature locking fingers syndrome

Short stature with delayed bone age due to thyroid hormone metabolism deficiency

Short stature with valvular heart disease and characteristic facies syndrome

Short stature with webbed neck and congenital heart disease syndrome

Short stature, advanced bone age, early-onset osteoarthritis syndrome

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome

Short stature, brachydactyly, obesity, global developmental delay syndrome

Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome

Short stature, pituitary and cerebellar defect and small sella turcica syndrome

Short tarsus with absence of lower eyelashes syndrome

Short ulna, dysmorphism, hypotonia, intellectual disability syndrome

Short-limb skeletal dysplasia with severe combined immunodeficiency

Shprintzen Goldberg craniosynostosis syndrome

Shprintzen Goldberg omphalocele syndrome

Shwachman syndrome

Siegler Brewer Carey syndrome

Simpson-Golabi-Behmel syndrome

Sinoatrial node dysfunction and deafness

SIX2-related frontonasal dysplasia

Skeletal dysplasia brachydactyly syndrome

Skeletal dysplasia with epilepsy and short stature syndrome

Skeletal dysplasia with intellectual disability syndrome

Skin fragility, wooly hair, palmoplantar keratoderma syndrome

Smith McCort dysplasia

Snyder-Robinson syndrome

Sonoda syndrome

Sotos' syndrome

SOX2 anophthalmia syndrome

Spastic ataxia with congenital miosis

Spastic paraplegia with precocious puberty syndrome

Spastic paraplegia, glaucoma, intellectual disability syndrome

Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome

Spastic paraplegia, severe developmental delay, epilepsy syndrome

Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome

Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

Spinocerebellar ataxia dysmorphism syndrome

Spinocerebellar ataxia type 34

Splenogonadal fusion, limb defect, micrognathia syndrome

Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome

Split hand, split foot malformation with sensorineural hearing loss syndrome

Split-foot malformation, mesoaxial polydactyly syndrome

Spondylo-megaepiphyseal-metaphyseal dysplasia

Spondylo-ocular syndrome

Spondylocamptodactyly syndrome

Spondylocarpotarsal synostosis syndrome

Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome

Spondyloenchondrodysplasia with immune dysregulation

Spondyloenchondromatosis1

Spondyloepimetaphyseal dysplasia aggrecan type

Spondyloepimetaphyseal dysplasia anauxetic type

Spondyloepimetaphyseal dysplasia Genevieve type

Spondyloepimetaphyseal dysplasia Handigodu type

Spondyloepimetaphyseal dysplasia Irapa type

Spondyloepimetaphyseal dysplasia matrilin-3 type

Spondyloepimetaphyseal dysplasia Missouri type

Spondyloepimetaphyseal dysplasia PAPSS2 type

Spondyloepimetaphyseal dysplasia Shohat type

Spondyloepimetaphyseal dysplasia with multiple dislocations

Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome

Spondyloepimetaphyseal dysplasia, Strudwick type

Spondyloepiphyseal dysplasia Cantu type

Spondyloepiphyseal dysplasia Kimberley type

Spondyloepiphyseal dysplasia MacDermot type

Spondyloepiphyseal dysplasia Maroteaux type

Spondyloepiphyseal dysplasia Reardon type

Spondyloepiphyseal dysplasia Stanescu type

Spondyloepiphyseal dysplasia tarda2

Spondyloepiphyseal dysplasia with congenital joint dislocations1

Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome

Spondylometaphyseal dysplasia11

Spondyloperipheral dysplasia1

Stapes ankylosis with broad thumb and toe syndrome

STAR syndrome

Steatocystoma multiplex with natal tooth syndrome

Steel syndrome

Steinfeld syndrome

Sterile multifocal osteomyelitis with periostitis and pustulosis

Stern Lubinsky Durrie syndrome

Steroid dehydrogenase deficiency and dental anomaly syndrome

Stickler syndrome3

Stickler syndrome type 3

Stromme syndrome

Subaortic stenosis and short stature syndrome

Sugarman brachydactyly

Summitt syndrome

Symphalangism Cushing type

Symphalangism with multiple anomalies of hands and feet syndrome

Syndactyly of fingers type 8

Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome

Syndromic microphthalmia type 5

Syndromic multisystem autoimmune disease due to ITCH deficiency

Syndromic orbital border hypoplasia

Syndromic X-linked intellectual disability due to JARID1C mutation

Syndromic X-linked intellectual disability type 11

Syndromic X-linked intellectual disability type 7

Tall stature, intellectual disability, renal anomalies syndrome

Tall stature, scoliosis, macrodactyly of great toe syndrome

Talo-patello-scaphoid osteolysis syndrome

TARP syndrome

Tarsal-carpal coalition syndrome

Teebi Shaltout syndrome

Tel Hashomer camptodactyly syndrome

Temple Baraitser syndrome

Temtamy preaxial brachydactyly syndrome

Temtamy syndrome

Tetra-amelia syndrome

Tetraamelia with multiple malformation syndrome

Tetramelic monodactyly

Thakker Donnai syndrome

Thickened earlobe with conductive deafness syndrome

Thomas syndrome

Thong Douglas Ferrante syndrome

Thoracic dysplasia and hydrocephalus syndrome

Thoracolaryngopelvic dysplasia

Thoracomelic dysplasia

Thrombocythemia with distal limb defect

Thumb stiffness, brachydactyly, intellectual disability syndrome

Thymic, renal, anal, lung dysplasia syndrome

Tibial aplasia and ectrodactyly syndrome

Timothy syndrome type 1

Timothy syndrome type 2

TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

Toriello Carey syndrome

Torticollis, keloids, cryptorchidism, renal dysplasia syndrome

Total intestinal aganglionosis

Treacher Collins syndrome

Trichodysplasia xeroderma syndrome

Trichoodontoonychial dysplasia

Trichorhinophalangeal syndrome type 1 and 3

Trichothiodystrophy5

Trigonocephaly with broad thumb syndrome

Trigonocephaly, short stature, developmental delay syndrome

Triphalangeal thumb and dislocation of patella syndrome

Triphalangeal thumb and polysyndactyly syndrome

Triphalangeal thumb with brachyectrodactyly syndrome

Turcot syndrome

Type 3 lissencephaly

Ulbright Hodes syndrome

Ulna metaphyseal dysplasia syndrome

Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome

Upington disease

Upper limb defect with eye and ear abnormalities syndrome

Urban Rogers Meyer syndrome

Uveal coloboma with cleft lip and palate and intellectual disability syndrome

VACTERL syndrome with hydrocephalus

Van den Bosch syndrome

Velofacioskeletal syndrome

Vici syndrome

Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome

Waardenburg's syndrome5

Warsaw breakage syndrome

Weaver Williams syndrome

Wellesley Carman French syndrome

Werner syndrome

White forelock with malformations syndrome

Wiedemann Steiner syndrome

Wilson Turner syndrome

Witteveen Kolk syndrome

Woodhouse Sakati syndrome

Wrinkly skin syndrome

WT limb blood syndrome

X-linked agammaglobulinemia with growth hormone deficiency

X-linked asexual dwarfism

X-linked calvarial hyperostosis

X-linked cerebral, cerebellar, coloboma syndrome

X-linked cleft palate and ankyloglossia

X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome

X-linked congenital generalized hypertrichosis

X-linked dominant chondrodysplasia Chassaing Lacombe type

X-linked epilepsy with learning disability and behavior disorder syndrome

X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome

X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

X-linked hydrocephalus syndrome

X-linked intellectual disability Abidi type

X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome

X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome

X-linked intellectual disability Armfield type

X-linked intellectual disability Brooks type

X-linked intellectual disability Cabezas type

X-linked intellectual disability Cantagrel type

X-linked intellectual disability Cilliers type

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability Hedera type

X-linked intellectual disability hypotonic face syndrome

X-linked intellectual disability Miles Carpenter type

X-linked intellectual disability Nascimento type

X-linked intellectual disability Pai type

X-linked intellectual disability Schimke type

X-linked intellectual disability Seemanova type

X-linked intellectual disability Shrimpton type

X-linked intellectual disability Siderius type

X-linked intellectual disability Stevenson type

X-linked intellectual disability Stocco Dos Santos type

X-linked intellectual disability Stoll type

X-linked intellectual disability Turner type

X-linked intellectual disability Van Esch type

X-linked intellectual disability Wilson type

X-linked intellectual disability with acromegaly and hyperactivity syndrome

X-linked intellectual disability with ataxia and apraxia syndrome

X-linked intellectual disability with cerebellar hypoplasia syndrome

X-linked intellectual disability with cubitus valgus and dysmorphism syndrome

X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome

X-linked intellectual disability with marfanoid habitus

X-linked intellectual disability with plagiocephaly syndrome

X-linked intellectual disability with seizure and psoriasis syndrome

X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome

X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome

X-linked intellectual disability, craniofacioskeletal syndrome

X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome

X-linked intellectual disability, macrocephaly, macroorchidism syndrome

X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

X-linked lissencephaly with abnormal genitalia syndrome

X-linked mandibulofacial dysostosis

X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome

X-linked myopathy with excessive autophagy

X-linked neurodegenerative syndrome Hamel type

X-linked osteoporosis with fractures

X-linked periventricular heterotopia

X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

X-linked retinal dysplasia

X-linked spasticity, intellectual disability, epilepsy syndrome

X-linked spondyloepimetaphyseal dysplasia

Xeroderma pigmentosum11

XK aprosencephaly syndrome

Xp22.13p22.2 duplication syndrome

Xq12-q13.3 duplication syndrome

Xq25 microduplication syndrome

XTE syndrome

XY type gonadal dysgenesis with associated anomalies syndrome

XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation

Zechi Ceide syndrome

Zellweger syndrome

Zellweger-like syndrome without peroxisomal anomaly

Zlotogora Ogur syndrome