Visualize Submit Comment

Metadata
ID	DOID:0060269
Name	pontocerebellar hypoplasia type 2C
Definition	A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. https://www.omim.org/entry/612390
Xrefs	MESH:C567324 MIM:612390 ORDO:2524 UMLS_CUI:C2676465
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