Autosomal recessive hereditary disorder	Congenital neurological disorder	Cortical blindness	Developmental hereditary disorder	Disorder of visual pathways	Epileptic encephalopathy	Hereditary disorder of nervous system	Hereditary disorder of the visual system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
	Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome
	A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
	syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke beperking en faciale dysmorfie
	syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke handicap en faciale dysmorfie syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, mentale retardatie en faciale dysmorfie

Id	773548008
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe
Occurrence	Congenital

Finding site	Visual pathway structure
Occurrence	Congenital

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G40.4
Rule	TRUE
Advice	ALWAYS G40.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified