Senior-loken syndrome 8

Preferred Label : Senior-loken syndrome 8;

Symbol : SLSN8;

CISMeF acronym : SLSN8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein-19 (WDR19, 608151.0001);

Laboratory abnormalities : Normal blood biochemistry; Normal urinalysis;

Prefixed ID : #616307;

Details

Origin ID

616307;

UMLS CUI

C4225376;

Genes related to phenotype
- Wd repeat-containing protein 19 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hepatic cysts [HPO term]
- Macular atrophy [HPO term]
- Nephronophthisis [HPO term]
- Pallor [HPO term]
- Pancreatic cysts [HPO term]
- Reduced visual acuity [HPO term]
- Vascular dilatation [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Senior-Loken syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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