Developmental mental disorder

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Intellectual disability (disorder)
	Intellectual disability
	Intellectual developmental disorder
	verstandelijke beperking
	verstandelijke handicap mentale retardatie
	verstandelijke beperking
	verstandelijke handicap
	Psychische stoornissen bij mensen met een IQ minder dan 70, gekenmerkt door beperkingen in het verstandelijk functioneren.

Id	110359009
Status	Primitive

Pathological process

Pathological developmental process

PALGA thesaurus simple reference set for pathology

General Practice / Family Practice reference set

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	F79.9
Rule	TRUE
Advice	ALWAYS F79.9
Correlation	SNOMED CT source code to target map code correlation not specified

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11p15.4 microduplication syndrome

11q22.2q22.3 microdeletion syndrome

12q14 microdeletion syndrome

13q12.3 microdeletion syndrome

14q24.1q24.3 microdeletion syndrome

14q32 deletion syndrome

15q overgrowth syndrome

16p13.2 microdeletion syndrome

17q11.2 microduplication syndrome

17q24.2 microdeletion syndrome

19p13.3 microduplication syndrome

19q13.11 microdeletion syndrome

1p21.3 microdeletion syndrome

20q11.2 microdeletion syndrome

21q22.11q22.12 microdeletion syndrome

2p13.2 microdeletion syndrome

3q27.3 microdeletion syndrome

5-amino-4-imidazole carboxamide ribosiduria

5p13 microduplication syndrome

8q24.3 microdeletion syndrome

9q21.13 microdeletion syndrome

9q31.1q31.3 microdeletion syndrome

9q33.3q34.11 microdeletion syndrome

Achalasia microcephaly syndrome

ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder

Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

Agenesis of corpus callosum and abnormal genitalia syndrome

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

Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome

AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism 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, progressive neurological defect, endocrinopathy syndrome

Alpha-thalassemia intellectual disability syndrome linked to chromosome 16

Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome

Angelman syndrome1

Aniridia and intellectual disability syndrome

Aniridia, renal agenesis, psychomotor retardation syndrome

ANK3-related intellectual disability, sleep disturbance syndrome

Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome

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

Arachnodactyly and intellectual disability with facial dysmorphism syndrome

Arachnodactyly with abnormal ossification and intellectual disability syndrome

Ataxia with deafness and intellectual disability syndrome

Ataxia, photosensitivity, short stature syndrome

Atkin Flaitz syndrome

Atypical hypotonia cystinuria syndrome

Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autism spectrum disorder due to AUTS2 deficiency

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 chorioretinopathy and microcephaly syndrome

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

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

Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

Bardet-Biedl syndrome

Basel Vanagaite Smirin Yosef syndrome

Biemond syndrome type 2

Blepharonasofacial malformation syndrome

Blepharophimosis, intellectual disability syndrome4

Borderline intellectual disability

Borjeson-Forssman-Lehmann syndrome

Brachydactyly and preaxial hallux varus syndrome

Brachydactyly, mesomelia, intellectual disability, heart defect syndrome

Brachymorphism with onychodysplasia and dysphalangism syndrome

Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome

Branchial dysplasia, intellectual disability, inguinal hernia syndrome

BRESEK syndrome

Bullous dystrophy macular type

CASK related intellectual disability

Caudal appendage deafness syndrome

Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

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

Cerebro-facio-thoracic dysplasia

Cerebrofacioarticular syndrome

Cerebrooculonasal syndrome

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

CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome

Christianson syndrome

Chromosome Xp11.3 microdeletion syndrome

CLCN4-related X-linked intellectual disability syndrome

Cleft palate with short stature and vertebral anomaly syndrome

CNTNAP2-related developmental and epileptic encephalopathy

Coffin-Siris syndrome1

Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome

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

Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome

Combined oxidative phosphorylation defect type 23

Congenital cataract with ataxia and deafness syndrome

Congenital cataract with deafness and hypogonadism syndrome

Congenital cataract with hypertrichosis and intellectual disability syndrome

Congenital cerebellar ataxia due to RNU12 mutation

Congenital hypoplasia of ulna and intellectual disability syndrome

Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome

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

Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome

Congenital muscular dystrophy with intellectual disability

Congenital muscular dystrophy with intellectual disability and severe epilepsy

Contracture with ectodermal dysplasia and orofacial cleft syndrome

Cooper Jabs syndrome

Cortical blindness, intellectual disability, polydactyly syndrome

Craniodigital syndrome and intellectual disability syndrome

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

Craniofaciofrontodigital syndrome

Cryptorchidism, arachnodactyly, intellectual disability syndrome

Cutis laxa-corneal clouding-oligophrenia syndrome

Cyclin-dependent kinase-like 5 deficiency

Cystic fibrosis with gastritis and megaloblastic anemia syndrome

Cystic leukoencephalopathy without megalencephaly

Deafness and intellectual disability Martin Probst type syndrome

Deafness with onychodystrophy syndrome2

Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

Deafness-dystonia-optic neuronopathy syndrome

Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

Developmental and speech delay due to SOX5 deficiency

Developmental delay with autism spectrum disorder and gait instability

Developmental delay, facial dysmorphism syndrome due to MED13L deficiency

Diencephalic mesencephalic junction dysplasia

Disorder of sex development with intellectual disability syndrome

Distal Xq28 microduplication syndrome

DNMT3A-related overgrowth syndrome

DYRK1A-related intellectual disability syndrome1

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

Early onset parkinsonism and intellectual disability syndrome

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 seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome

Ectodermal dysplasia with blindness syndrome

Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome

Encephalopathy due to mitochondrial and peroxisomal fission defect

Encephalopathy, intracerebral calcification, retinal degeneration syndrome

Epilepsy telangiectasia syndrome

Epilepsy, microcephaly, skeletal dysplasia syndrome

Epiphyseal dysplasia, hearing loss, dysmorphism syndrome

Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome

Facial dysmorphism, cleft palate, loose skin syndrome

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

Faciocardiorenal syndrome

Fallot complex with intellectual disability and growth delay syndrome

FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome

Female restricted epilepsy with intellectual disability syndrome

Filippi syndrome

Fine Lubinsky syndrome

Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome

Fountain syndrome

Fragile X syndrome

FRAXE intellectual disability syndrome

Gabriele-de Vries syndrome

Gillespie syndrome

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

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

GNB5-related intellectual disability, cardiac arrhythmia syndrome

Goldberg Shprintzen megacolon syndrome

Goldblatt Wallis syndrome

Growth delay, intellectual disability, hepatopathy syndrome

Growth retardation, intellectual developmental disorder and hepatopathy syndrome

Grubben, De Cock, Borghgraef syndrome

Hair defect with photosensitivity and intellectual disability syndrome

Hall Riggs syndrome

Harrod syndrome

Hennekam syndrome

Hepatic fibrosis, renal cyst, intellectual disability syndrome

Hereditary cryohydrocytosis with reduced stomatin

HIVEP2-related intellectual disability

Hyperekplexia epilepsy syndrome

Hyperphosphatasemia with intellectual disability

Hypogonadism with mitral valve prolapse and intellectual disability syndrome

Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome

Hypotonia, speech impairment, severe cognitive delay syndrome

Hypotrichosis and intellectual disability syndrome Lopes type

Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome

Ichthyosis, intellectual disability, dwarfism, renal impairment 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

Intellectual disability Birk-Barel type

Intellectual disability Buenos Aires type

Intellectual disability due to hypoxia

Intellectual disability due to nutritional deficiency

Intellectual disability with cataract and kyphosis syndrome

Intellectual disability with strabismus syndrome

Intellectual disability Wolff type

Intellectual disability, alacrima, achalasia syndrome

Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome

Intellectual disability, brachydactyly, Pierre Robin syndrome

Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome

Intellectual disability, cataract, calcified pinna, myopathy syndrome

Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome

Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome

Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

Intellectual disability, developmental delay, contracture 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, feeding difficulties, developmental delay, microcephaly 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, muscle weakness, short stature, facial dysmorphism 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, polydactyly, uncombable hair syndrome

Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

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

Intellectual disability, seizures, macrocephaly, obesity syndrome

Intellectual disability, severe speech delay, mild dysmorphism syndrome

Intellectual disability, short stature, hypertelorism syndrome

Intellectual disability, spasticity, ectrodactyly syndrome

Isodicentric chromosome 15 syndrome

Kagami Ogata syndrome

Kapur Toriello syndrome

Karandikar Maria Kamble syndrome

Kawashima Tsuji syndrome

Kleefstra syndrome

Kohlschutter's syndrome

Laryngeal abductor paralysis with intellectual disability syndrome

Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome

Laurence-Moon syndrome

Lipodystrophy, intellectual disability, deafness syndrome

Lowry MacLean 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

Macrocephaly, short stature, paraplegia syndrome

Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

Malan overgrowth syndrome

Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

Marfanoid habitus with autosomal recessive intellectual disability syndrome

McDonough syndrome

MEDNIK syndrome

Megaconial congenital muscular dystrophy

Megalocornea with intellectual disability syndrome

Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

Metopic ridging, ptosis, facial dysmorphism syndrome

Microbrachycephaly, ptosis, cleft lip syndrome

Microcephalic cortical malformations, short stature due to RTTN deficiency

Microcephalic primordial dwarfism Alazami type

Microcephalic primordial dwarfism Dauber type

Microcephalic primordial dwarfism Montreal type

Microcephalus cardiomyopathy syndrome

Microcephalus with brachydactyly and kyphoscoliosis syndrome

Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome

Microcephalus, glomerulonephritis, marfanoid habitus syndrome

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

Microcephaly, seizure, intellectual disability, heart disease syndrome

Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome

Microcephaly, thin corpus callosum, intellectual disability syndrome

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

Microphthalmia with ankyloblepharon and intellectual disability syndrome

Mild intellectual disability1

Moderate intellectual disability

Mowat-Wilson syndrome1

Muscle eye brain disease with bilateral multicystic leukodystrophy

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

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

Neurofaciodigitorenal syndrome

Neuronal ceroid lipofuscinosis 8

Nijmegen breakage syndrome-like disorder

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Non-progressive cerebellar ataxia with intellectual disability

Non-specific syndromic intellectual disability1

Oculocerebrofacial syndrome Kaufman type

Oculopalatocerebral syndrome

Okamoto syndrome

Oliver syndrome

Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome

Optic atrophy, intellectual disability syndrome

Oro-facial digital syndrome type 10

Oro-facial digital syndrome type 11

Oro-facial digital syndrome type 14

Oro-facial digital syndrome type 5

Oro-facial digital syndrome type 8

Oro-facial digital syndrome type 9

Ossification anomaly with psychomotor developmental delay syndrome

Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

Osteopenia, intellectual disability, sparse hair syndrome

Pachygyria, intellectual disability, epilepsy syndrome

Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome

Pallister W syndrome

Partington syndrome

Perniola Krajewska Carnevale syndrome

Pettigrew syndrome

PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome

Phosphoribosylpyrophosphate synthetase superactivity

Piebald trait with neurologic defects syndrome

Pierpont syndrome

Pitt-Hopkins syndrome

PMP22-RAI1 contiguous gene duplication syndrome

Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome

Polymicrogyria with optic nerve hypoplasia

Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome

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

PPP2R5D-related intellectual disability

Preaxial polydactyly, colobomata, intellectual disability syndrome

Prieto Badia Mulas syndrome

Profound intellectual disability

Progressive cerebello-cerebral atrophy

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

Prune belly syndrome with pulmonic stenosis, mental retardation and deafness

PRUNE1-related neurological syndrome

Pseudoleprechaunism syndrome Patterson type

Pseudoprogeria syndrome

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

QRICH1-related intellectual disability, chondrodysplasia syndrome

RAB18 deficiency2

Radioulnar synostosis with developmental delay and hypotonia syndrome

Radioulnar synostosis with microcephaly and scoliosis syndrome

Ramos Arroyo syndrome

Rare non-syndromic intellectual disability

RARS-related autosomal recessive hypomyelinating leukodystrophy

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

Renpenning syndrome

RERE-related neurodevelopmental syndrome

Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

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

Rett's disorder

Richieri Costa-da Silva syndrome

Roifman syndrome

Sanjad Sakati syndrome

SATB2-associated syndrome

Savant syndrome

Scholte syndrome

SCN8A-related epilepsy with encephalopathy

Seckel syndrome

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

Seizures and intellectual disability due to hydroxylysinuria

Seizures, scoliosis, macrocephaly syndrome

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

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

Severe intellectual disability9

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

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

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

Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome

Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome

Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract

Severe oculo-renal-cerebellar syndrome

Severe X-linked intellectual disability Gustavson type

Short stature with webbed neck and congenital heart disease syndrome

Short stature, brachydactyly, obesity, global developmental delay syndrome

Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome

Short ulna, dysmorphism, hypotonia, intellectual disability syndrome

Shprintzen Goldberg craniosynostosis syndrome

Skeletal dysplasia with epilepsy and short stature syndrome

Skeletal dysplasia with intellectual disability syndrome

Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome

Snyder-Robinson syndrome

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

Spondyloepimetaphyseal dysplasia Genevieve type

Spondyloepiphyseal dysplasia tarda Kohn type

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

STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome

Stimmler syndrome

Syndromic X-linked intellectual disability due to JARID1C mutation

Syndromic X-linked intellectual disability type 11

Syndromic X-linked intellectual disability type 7

SYNGAP1-related developmental and epileptic encephalopathy

SYNGAP1-related intellectual disability

Tall stature, intellectual disability, renal anomalies syndrome

TELO2-related intellectual disability, neurodevelopmental disorder

Temple Baraitser syndrome

Temtamy preaxial brachydactyly syndrome

Temtamy syndrome

Tetrasomy 12p syndrome

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Thumb stiffness, brachydactyly, intellectual disability syndrome

Toriello Carey syndrome

Urban Rogers Meyer syndrome

Uveal coloboma with cleft lip and palate and intellectual disability syndrome

Van den Bosch syndrome

VPS11-related autosomal recessive hypomyelinating leukodystrophy

WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome1

Weaver Williams syndrome

White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome

White Sutton syndrome

Wiedemann Steiner syndrome

Wilson Turner syndrome

Witteveen Kolk syndrome

Wolf Hirschhorn syndrome

Woodhouse Sakati syndrome

X-linked cerebral, cerebellar, coloboma syndrome

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

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

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, hypogonadism, ichthyosis, obesity, short stature syndrome

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

X-linked intellectual disability, macrocephaly, macroorchidism syndrome

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

X-linked neurodegenerative syndrome Hamel type

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

X-linked spasticity, intellectual disability, epilepsy syndrome

Xq25 microduplication syndrome

XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation

Zechi Ceide syndrome