Ritscher-schinzel syndrome 4

Preferred Label : Ritscher-schinzel syndrome 4;

Symbol : RTSC4;

Type : Phenotype, molecular basis known;

Prefixed ID : #619435;

Details

Origin ID

619435;

UMLS CUI

C5561939;

Genes related to phenotype
- Dihydropyrimidinase-like 5 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Brachycephaly [HPO term]
- Cerebellar hypoplasia [HPO term]
- Chorea [HPO term]
- Cryptorchidism [HPO term]
- Curly hair [HPO term]
- Dandy-Walker malformation [HPO term]
- Decreased fetal movement [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysgenesis of the hippocampus [HPO term]
- Dysphagia [HPO term]
- Focal-onset seizure [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Hip dysplasia [HPO term]
- Hypertelorism [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Impaired toileting ability [HPO term]
- Impulsivity [HPO term]
- Intellectual disability, severe [HPO term]
- Joint hypermobility [HPO term]
- Limited knee extension [HPO term]
- Macrotia [HPO term]
- Micropenis [HPO term]
- Mild fetal ventriculomegaly [HPO term]
- Narrow palate [HPO term]
- Narrow palm [HPO term]
- Plagiocephaly [HPO term]
- Premature anterior fontanel closure [HPO term]
- Proptosis [HPO term]
- Scoliosis [HPO term]
- Severe global developmental delay [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Thick vermilion border [HPO term]
- Ulnar deviation of the hand [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- 3C syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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