primary autosomal recessive microcephaly 29

Term ID

DOID:0051040

Synonyms

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/

References

• MIM:620047

Ontology

Human Disease   ( DOID:0051040 )