Orphanet: Early onset epileptic encephalopathy cortical blindness intellectual disability facial dysmorphism syndrome

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

Disease definition

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by 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.

ORPHA:411986

Classification level: Disorder

Synonym(s):
- Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy
ICD-10: G40.4
OMIM: 615859
UMLS: C4750952
MeSH: -
GARD: -
MedDRA: -

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

ORPHA:411986

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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