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pontocerebellar hypoplasia type 4

Disease Summary
Associated Targets (1)


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Mondo Description Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
Uniprot Description A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009166:  pontocerebellar hypoplasia type 4
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)