Pontocerebellar hypoplasia, type 10

Preferred Label : Pontocerebellar hypoplasia, type 10;

Symbol : PCH10;

CISMeF acronym : PCH10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the yeast cleavage and polyadenylation factor I subunit 1 gene (CLP1, 608757.0001);

Prefixed ID : #615803;

Details

Origin ID

615803;

UMLS CUI

C5190575;

CISMeF manual mappings
- pontocerebellar hypoplasia type 10 [DO Concept]
Currated CISMeF NLP mapping
- Congenital pontocerebellar hypoplasia type 10 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 10 [ORDO Disease]
DO Cross reference
- pontocerebellar hypoplasia type 10 [DO Concept]
Genes related to phenotype
- Cleavage factor polynucleotide kinase subunit 1 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Delayed myelination [HPO term]
- Encephalopathy [HPO term]
- Esotropia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Kyphoscoliosis [HPO term]
- Long eyelashes [HPO term]
- Long palpebral fissure [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Poor eye contact [HPO term]
- Progressive microcephaly [HPO term]
- Proptosis [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Simplified gyral pattern [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Underdeveloped nasal alae [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 10 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 10 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 10 [ORDO Disease]
- pontocerebellar hypoplasia type 10 [DO Concept]

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