ZFIN Human Disease: developmental and epileptic encephalopathy 23

OBO ID: DOID:0080415

Term Name:	developmental and epileptic encephalopathy 23		Search Ontology:
Synonyms:	DEE23 early infantile epileptic encephalopathy 23 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/24814191
References:	OMIM:615859 ORDO:411986
Ontology:	Human Disease ( DOID:0080415 )

Relationships

is a type of:	autosomal recessive disease developmental and epileptic encephalopathy autosomal recessive disease developmental and epileptic encephalopathy Show first 5 Terms

OTHER developmental and epileptic encephalopathy 23 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DOCK7	dock7	Developmental and epileptic encephalopathy 23	615859

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None