Intellectual developmental disorder with short stature, facial anomalies, and speech defects

Preferred Label : Intellectual developmental disorder with short stature, facial anomalies, and speech defects;

Symbol : IDDSFAS;

CISMeF acronym : IDDSFAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, short stature, facial anomalies, and joint dislocations;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the F-box and leucine-rich repeat protein 3 gene (FBXL3, 605653.0001);

Prefixed ID : #606220;

Détails

Origin ID

606220;

UMLS CUI

C1853507;

Currated CISMeF NLP mapping
- mental retardation, short stature, facial anomalies, and joint dislocations [MeSH concept]
- mental retardation, short stature, facial anomalies, and joint dislocations [MeSH Supplementary Concept]
Genes related to phenotype
- F-box and leucine-rich repeat protein 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Joint dislocation [HPO term]
- Joint laxity [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Poor speech [HPO term]
- Prominent nose [HPO term]
- Ptosis [HPO term]
- Short 4th metacarpal [HPO term]
- Short clavicles [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, short stature, facial anomalies, and joint dislocations [MeSH Supplementary Concept]
- mental retardation, short stature, facial anomalies, and joint dislocations [MeSH concept]

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