Visualize Submit Comment
Metadata
ID DOID:0051040
Name primary autosomal recessive microcephaly 29
Definition A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22.
https://pubmed.ncbi.nlm.nih.gov/32286682/
Xrefs

MIM:620047

Parent Relationships

is_a primary autosomal recessive microcephaly

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker