pontocerebellar hypoplasia type 1B

Term ID

DOID:0060266

Synonyms

Definition

A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. https://pubmed.ncbi.nlm.nih.gov/25149867/

References

• MIM:614678
• ORDO:2254

Ontology

Human Disease   ( DOID:0060266 )