Pontocerebellar hypoplasia, type 2e

Preferred Label : Pontocerebellar hypoplasia, type 2e;

Symbol : PCH2E;

CISMeF acronym : PCH2E;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the VPS53 subunit of GARP complex gene (VPS53, 615850.0001);

Prefixed ID : #615851;

Détails

Origin ID

615851;

UMLS CUI

C4014488;

CISMeF manual mappings
- pontocerebellar hypoplasia type 2E [DO Concept]
DO Cross reference
- pontocerebellar hypoplasia type 2E [DO Concept]
Genes related to phenotype
- Vps53 subunit of garp complex [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure with generalized onset [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Epicanthus [HPO term]
- Facial telangiectasia [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, profound [HPO term]
- Irritability [HPO term]
- Large earlobe [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Myoclonic seizure [HPO term]
- Myoclonus [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Opisthotonus [HPO term]
- Optic atrophy [HPO term]
- Osteoporosis [HPO term]
- Progressive [HPO term]
- Progressive microcephaly [HPO term]
- Scoliosis [HPO term]
- Secondary microcephaly [HPO term]
- Severe global developmental delay [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Tonic seizure [HPO term]
- Ventriculomegaly [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Progressive cerebello-cerebral atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pontocerebellar hypoplasia type 2E [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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