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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

OMIM:616486

Synonyms

MCPH15 [EXACT]

NEDMISBA [EXACT]

neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities [EXACT]

Parent Relationships

is_a primary autosomal recessive microcephaly

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