Jansen-de vries syndrome

Preferred Label : Jansen-de vries syndrome;

Symbol : JDVS;

CISMeF acronym : IDDGIP; JDVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : IDDGIP; Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein phosphatase, magnesium/manganese-dependent, 1D gene (PPM1D, 605100.0001);

Prefixed ID : #617450;

Details

Origin ID

617450;

UMLS CUI

C4479517;

Genes related to phenotype
- Protein phosphatase, magnesium/manganese-dependent, 1d [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad forehead [HPO term]
- Broad-based gait [HPO term]
- Constipation [HPO term]
- Delayed speech and language development [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperlordosis [HPO term]
- Hypermetropia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Posteriorly rotated ears [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Small nail [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Vomiting [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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