Search Ontology:
Human Disease
primary autosomal recessive microcephaly 15
- Term ID
- DOID:0070277
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0070277 )
- is a type of
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Genes Involved
Zebrafish Models