Term Name: | pontocerebellar hypoplasia type 1B |
---|---|
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. |
Ontology: | Human Disease [DOID:0060266] ( DOID:0060266 ) |