Primary Autosomal Recessive Microcephaly 15
Disease ID: disease_node_19295
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| Dbxref | MIM:616486 |
|---|---|
| Subclassof | DOID_0070296 |
| Data Source | DOID |
| Synonyms | MCPH15, NEDMISBA, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities |
| Doid Label | primary autosomal recessive microcephaly 15 |
| Doid Description | 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. |
| Disease Node Id | disease_node_19295 |
| Doid Id | DOID_0070277 |
| Label | Primary Autosomal Recessive Microcephaly 15 |
- Outgoing r'ship
SUBCLASS_OFto/from Primary Autosomal Recessive Microcephaly(ID:disease_node_19277) (Disease)