Stankiewicz-isidor syndrome

Preferred Label : Stankiewicz-isidor syndrome;

Symbol : STISS;

CISMeF acronym : STISS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the proteasome 26S subunit, non-ATPase, 12 gene (PSMD12, 604450.0001);

Prefixed ID : #617516;

Details

Origin ID

617516;

UMLS CUI

C4479599;

Genes related to phenotype
- Proteasome 26s subunit, non-atpase, 12 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormality of the optic disc [HPO term]
- Absent thumb [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Patent ductus arteriosus [HPO term]
- Pineal cyst [HPO term]
- Prominent nose [HPO term]
- Retrognathia [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
- Shawl scrotum [HPO term]
- Short thumb [HPO term]
- Strabismus [HPO term]
- Truncus arteriosus [HPO term]
- Ureteral duplication [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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