Short stature-micrognathia syndrome

Preferred Label : Short stature-micrognathia syndrome;

Symbol : SSMG;

CISMeF acronym : SRMMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SRMMD; Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the archain-1 gene (ARCN1, 600820.0001);

Prefixed ID : #617164;

Détails

Origin ID

617164;

UMLS CUI

C4310686;

Genes related to phenotype
- Archain 1 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Accelerated skeletal maturation [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad femoral neck [HPO term]
- Cleft palate [HPO term]
- Coxa valga [HPO term]
- Decreased body weight [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gait ataxia [HPO term]
- High palate [HPO term]
- Hypospadias [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Metaphyseal widening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Obstructive sleep apnea [HPO term]
- Retrognathia [HPO term]
- Rhizomelia [HPO term]
- Scaphocephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Small scrotum [HPO term]
- Ventricular septal defect [HPO term]
- Wide intermamillary distance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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