Term Name: | primary autosomal recessive microcephaly 15 |
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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 ) |