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 )

Relationships
is a type of: autosomal recessive disease pontocerebellar hypoplasia type 1