Silver-russell syndrome 3

Preferred Label : Silver-russell syndrome 3;

Symbol : SRS3;

CISMeF acronym : GRDF; SRS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GRDF; Growth restriction, severe, with distinctive facies;

Inheritance : Autosomal dominant (from paternal allele);

Molecular basis : Caused by mutation in the insulin-like growth factor-II gene (IGF2, 147470.0004);

Prefixed ID : #616489;

Détails

Origin ID

616489;

UMLS CUI

C4225307;

Genes related to phenotype
- Insulin-like growth factor II [OMIM gene]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Delayed skeletal maturation [HPO term]
- Feeding difficulties in infancy [HPO term]
- Finger clinodactyly [HPO term]
- Generalized hypotonia [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Low-set ears [HPO term]
- Melanocytic nevus [HPO term]
- Motor delay [HPO term]
- Patent ductus arteriosus [HPO term]
- Prominent forehead [HPO term]
- Relative macrocephaly [HPO term]
- Retrognathia [HPO term]
- Short stature [HPO term]
- Syndactyly [HPO term]
- Triangular face [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Silver-Russell syndrome [ORDO Disease]
- Silver-Russell syndrome due to a point mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients