Pontocerebellar hypoplasia, type 16

Preferred Label : Pontocerebellar hypoplasia, type 16;

Symbol : PCH16;

Type : Phenotype, molecular basis known;

Prefixed ID : #619527;

Details

Origin ID

619527;

UMLS CUI

C5561987;

Genes related to phenotype
- Multiple inositol polyphosphate phosphatase 1 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Absent speech [HPO term]
- Antenatal onset [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Dysphagia [HPO term]
- Hypoplasia of the pons [HPO term]
- Limb hypertonia [HPO term]
- Low-set ears [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Prominent nose [HPO term]
- Ptosis [HPO term]
- Recurrent urinary tract infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic tetraplegia [HPO term]
- Thin corpus callosum [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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