Term Name: primary autosomal recessive microcephaly 15
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.
Ontology: Human Disease [DOID:0070277]   ( DOID:0070277 )

Relationships
is a type of: primary autosomal recessive microcephaly