neurooculorenal syndrome
MONDO:0957210Mondo
Findings
No curated finding names neurooculorenal 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
- Congenital onset · Second trimester onset
HPO, annotations 2026-09-02
Features
46 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.
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- Broad philtrumHPOHP:0000289
- 1 of 1 reported patient
- Central hypothyroidismHPOHP:0011787
- 1 of 1 reported patient
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Decreased circulating ACTH concentrationHPOHP:0002920
- 1 of 1 reported patient
- Decreased circulating cortisol levelHPOHP:0008163
- 1 of 1 reported patient
- Ectopic posterior pituitaryHPOHP:0011755
- 1 of 1 reported patient
- Highly arched eyebrowHPOHP:0002553
- 1 of 1 reported patient
- Hypoplasia of the ponsHPOHP:0012110
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Recurrent hypoglycemiaHPOHP:0001988
- 1 of 1 reported patient
Show the remaining 34
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
- Hyperechogenic kidneysHPOHP:0004719
- 5 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 5 reported patients
- AnhydramniosHPOHP:0025700
- 2 of 3 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.
- ROBO1HGNC:10249
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of