pontocerebellar hypoplasia type 2D

Term ID

DOID:0060270

Synonyms

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

References

• ICD10CM:Q04.3
• MIM:613811
• ORDO:2524

Ontology

Human Disease   ( DOID:0060270 )