primary autosomal recessive 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
OMIM:PS251200
ORDO:2512

Ontology

Human Disease ( DOID:0070296 )

Relationships

is a type of: autosomal recessive disease primary microcephaly

autosomal recessive disease primary microcephaly Show first 5 Terms
has subtype: primary autosomal recessive microcephaly 1 primary autosomal recessive microcephaly 2 with or without cortical malformations primary autosomal recessive microcephaly 3 primary autosomal recessive microcephaly 4 primary autosomal recessive microcephaly 5 ... Show All 18 Terms

primary autosomal recessive microcephaly 1 primary autosomal recessive microcephaly 2 with or without cortical malformations primary autosomal recessive microcephaly 3 primary autosomal recessive microcephaly 4 primary autosomal recessive microcephaly 5 primary autosomal recessive microcephaly 6 primary autosomal recessive microcephaly 7 primary autosomal recessive microcephaly 8 primary autosomal recessive microcephaly 9 primary autosomal recessive microcephaly 10 primary autosomal recessive microcephaly 11 primary autosomal recessive microcephaly 12 primary autosomal recessive microcephaly 13 primary autosomal recessive microcephaly 14 primary autosomal recessive microcephaly 15 primary autosomal recessive microcephaly 16 primary autosomal recessive microcephaly 17 primary autosomal recessive microcephaly 19 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations