ZFIN Human Disease: microcephaly, seizures, and developmental delay

OBO ID: DOID:0080457

Term Name:	microcephaly, seizures, and developmental delay		Search Ontology:
Synonyms:	developmental and epileptic encephalopathy 10 early infantile epileptic encephalopathy 10
Definition:	A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (2)
References:	OMIM:613402
Ontology:	Human Disease ( DOID:0080457 )

Relationships

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

OTHER microcephaly, seizures, and developmental delay PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PNKP	pnkp	Microcephaly, seizures, and developmental delay	613402

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None