neurooculocardiogenitourinary syndrome
MONDO:0032850Mondo
Findings
No curated finding names neurooculocardiogenitourinary syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
27 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.
- Abnormal palmar crease morphologyHPOHP:0010490
- 5 of 5 reported patients
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- Bilateral cryptorchidismHPOHP:0008689
- 2 of 2 reported patients · Male
- Downturned corners of mouthHPOHP:0002714
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Prominent nasal bridgeHPOHP:0000426
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 5 of 5 reported patients
- Smooth philtrumHPOHP:0000319
- 4 of 4 reported patients
- ColobomaHPOHP:0000589
- 4 of 5 reported patients
- High foreheadHPOHP:0000348
- 4 of 5 reported patients
- Low-set earsHPOHP:0000369
- 3 of 5 reported patients
Show the remaining 15
- MicrophthalmiaHPOHP:0000568
- 3 of 5 reported patients
- Secondary microcephalyHPOHP:0005484
- 3 of 5 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 of 5 reported patients · Congenital onset
- Wide intermamillary distanceHPOHP:0006610
- 3 of 5 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 4 reported patients
- Atrial septal defectHPOHP:0001631
- 2 of 5 reported patients · Congenital onset
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.
- WDR37HGNC:31406
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of