autosomal recessive primary microcephaly

Term ID

DOID:0070296

Synonyms

• MCPH

Definition

A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. (2)

References

• GARD:12117
• ORDO:2512

Ontology

Human Disease   ( DOID:0070296 )