ZFIN Human Disease: developmental and epileptic encephalopathy 37

OBO ID: DOID:0080435

Term Name:	developmental and epileptic encephalopathy 37		Search Ontology:
Synonyms:	DEE37 early infantile epileptic encephalopathy 37
Definition:	A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/27236917
References:	OMIM:616981
Ontology:	Human Disease ( DOID:0080435 )

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 37 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FRRS1L	frrs1l	Developmental and epileptic encephalopathy 37	616981

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None