ZFIN Human Disease: primary autosomal recessive microcephaly 15

OBO ID: DOID:0070277

Term Name:	primary autosomal recessive microcephaly 15		Search Ontology:
Synonyms:	MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
Definition:	A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. (2)
References:	OMIM:616486
Ontology:	Human Disease ( DOID:0070277 )

Relationships

is a type of:	primary autosomal recessive microcephaly primary autosomal recessive microcephaly Show first 5 Terms

OTHER primary autosomal recessive microcephaly 15 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MFSD2A	mfsd2ab mfsd2aa	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities	616486

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None