primary autosomal recessive microcephaly 15 (DOID:0070277)
Alliance: disease page
Synonyms: MCPH15; NEDMISBA; neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
Alt IDs: OMIM:616486
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.