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Human Disease

primary autosomal recessive microcephaly 15

Term ID
DOID:0070277
Synonyms
  • 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 )
Relationships
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Genes Involved
Zebrafish Models