Visualize Submit Comment

Metadata
ID	DOID:0060268
Name	pontocerebellar hypoplasia type 2B
Definition	A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. https://www.omim.org/entry/612389
Xrefs	MESH:C567325 MIM:612389 ORDO:2524 UMLS_CUI:C2676466
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia type 2 is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance