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:
Ontology: Human Disease   (DOID:0070277)
OTHER primary autosomal recessive microcephaly 15 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MFSD2A Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities 616486
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None