Webb-dattani syndrome

Preferred Label : Webb-dattani syndrome;

Symbol : WEDAS;

CISMeF acronym : WEDAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aryl hydrocarbon receptor nuclear translocator-2 gene (ARNT2, 606036.0001);

Laboratory abnormalities : Hypernatremia;

Prefixed ID : #615926;

Details

Origin ID

615926;

UMLS CUI

C4014708;

Genes related to phenotype
- Aryl hydrocarbon receptor nuclear translocator 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cryptorchidism [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Deeply set eye [HPO term]
- Delayed myelination [HPO term]
- Diabetes insipidus [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Hydronephrosis [HPO term]
- Hypernatremia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Microcephaly [HPO term]
- Neurogenic bladder [HPO term]
- Pituitary hypothyroidism [HPO term]
- Prominent forehead [HPO term]
- Retrognathia [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Spasticity [HPO term]
- Vesicoureteral reflux [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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