Pontocerebellar hypoplasia, type 1d

Preferred Label : Pontocerebellar hypoplasia, type 1d;

Symbol : PCH1D;

CISMeF acronym : PCH1D;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the exosome component 9 gene (EXOSC9, 606180.0001);

Prefixed ID : #618065;

Details

Origin ID

618065;

UMLS CUI

C4748058;

Genes related to phenotype
- Exosome component 9 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Adducted thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Decreased fetal movement [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Fasciculations [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hyporeflexia [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Oligohydramnios [HPO term]
- Oral-pharyngeal dysphagia [HPO term]
- Poor head control [HPO term]
- Progressive [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Spasticity [HPO term]
- Weak cry [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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