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developmental and epileptic encephalopathy, 23

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormally marked pontobulbar sulcus with mild pontine hypoplasia, white matter abnormalities, and atrophy in the occipital lobe.
Disease Ontology Description An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
Mondo Term and Equivalent IDs
MONDO:0014371:  developmental and epileptic encephalopathy, 23
Orphanet:411986: 
UMLS:C4014492: