Version: 8.0.0
Date: Tue Jan 28 2025
primary autosomal recessive microcephaly 15
DOID:0070277
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • MCPH15
  • NEDMISBA
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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