pontocerebellar hypoplasia type 4

Term ID

DOID:0060273

Synonyms

Definition

A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://pubmed.ncbi.nlm.nih.gov/18711368/

References

• GARD:343
• MESH:C536716
• MIM:225753
• ORDO:166063
• SNOMEDCT_US_2023_03_01:718608006
• UMLS_CUI:C1856974

Ontology

Human Disease   ( DOID:0060273 )