Fg syndrome 2 - CISMeF

Preferred Label : Fg syndrome 2;

Symbol : FGS2;

CISMeF acronym : FGS2;

Type : Phenotype, molecular basis known;

Description : Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the filamin A gene (FLNA, 300017.0028);

Laboratory abnormalities : Normal karyotype;

Prefixed ID : #300321;

Details

Origin ID

300321;

UMLS CUI

C1845902;

Broader ORDO disease(s)
- FG syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- FG syndrome 2 [MeSH concept]
DO Cross reference
- FG syndrome [DO Concept]
Genes related to phenotype
- Filamin a [OMIM gene]
HPO term(s)
- Broad hallux [HPO term]
- Constipation [HPO term]
- Decreased body weight [HPO term]
- Delayed speech and language development [HPO term]
- Frontal upsweep of hair [HPO term]
- Large forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Prominent forehead [HPO term]
- Protruding ear [HPO term]
- Underdeveloped superior crus of antihelix [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- FG syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FG syndrome 2 [MeSH concept]

Keyword's position in hierarchy(ies) :

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