Human genes for primary autosomal recessive microcephaly 15
Primary autosomal recessive microcephaly 15 [DOID:0070277]
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: primary autosomal recessive microcephaly 15, DOID:0070277, MCPH15, NEDMISBA, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities ...