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DOID:0070277 - primary autosomal recessive microcephaly 15
Disease Ontology 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.
Synonyms: MCPH15, NEDMISBA, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee