primary autosomal recessive microcephaly 28

Term ID

DOID:0051039

Synonyms

Definition

A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/33199730/

References

• MIM:619453

Ontology

Human Disease   ( DOID:0051039 )