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primary autosomal recessive microcephaly 15
Summary
- Synonym
-
- 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.
- Super Class
- primary autosomal recessive microcephaly
External Links
- Disease Ontology
- DOID:0070277
- Mondo Disease Ontology
- OMIM
Related Genes
