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

• OMIM:616486

Ontology

Human Disease   ( DOID:0070277 )