| Metadata | |
|---|---|
| ID | DOID:0070277 |
| Name | primary autosomal recessive microcephaly 15 |
| 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. https://pubmed.ncbi.nlm.nih.gov/30043326/, https://www.ncbi.nlm.nih.gov/pubmed/26005868 |
| Xrefs | |
| Synonyms |
MCPH15 [EXACT] NEDMISBA [EXACT] neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities [EXACT] |
| Parent Relationships |