Visualize Submit Comment

Metadata
ID	DOID:0060270
Name	pontocerebellar hypoplasia type 2D
Definition	A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. https://www.omim.org/entry/613811
Xrefs	ICD10CM:Q04.3 MIM:613811 ORDO:2524
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