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DOID:0080415 - developmental and epileptic encephalopathy 23
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
Synonyms: DEE23, Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome, Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome, early infantile epileptic encephalopathy 23,
Xenbase Genes
:
dock7
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)