Webb-Dattani syndrome
MONDO:0014404Mondo
Findings
No curated finding names Webb-Dattani syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anterior pituitary hypoplasiaHPOHP:0010627
- 6 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 6 of 6 reported patients
- BlindnessHPOHP:0000618
- 6 of 6 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 2 of 2 reported patients
- Deep philtrumHPOHP:0002002
- 6 of 6 reported patients
- Deeply set eyeHPOHP:0000490
- 6 of 6 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 6 of 6 reported patients
- Diabetes insipidusHPOHP:0000873
- 6 of 6 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 6 of 6 reported patients
- Hip dislocationHPOHP:0002827
- 6 of 6 reported patients
- HydronephrosisHPOHP:0000126
- 6 of 6 reported patients
Show the remaining 14
- HypernatremiaHPOHP:0003228
- 6 of 6 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 6 of 6 reported patients
- HyposthenuriaHPOHP:0003158
- 5 of 5 reported patients
- Neurogenic bladderHPOHP:0000011
- 6 of 6 reported patients
- Prominent foreheadHPOHP:0011220
- 6 of 6 reported patients
- RetrognathiaHPOHP:0000278
- 6 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARNT2HGNC:16876
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: Webb-Dattani syndrome
- Also called
- hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome