Ritscher-Schinzel syndrome 3
MONDO:0030864Mondo
Findings
No curated finding names Ritscher-Schinzel syndrome 3 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
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
28 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.
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 2 reported patients
- Chorioretinal colobomaHPOHP:0000567
- 2 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Delayed ability to roll overHPOHP:0032989
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Epiphyseal stipplingHPOHP:0010655
- 2 of 2 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient · Childhood onset
- Highly arched eyebrowHPOHP:0002553
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Hypoplasia of the ulnaHPOHP:0003022
- 1 of 1 reported patient
Show the remaining 16
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- Periventricular nodular heterotopiaHPOHP:0032388
- 1 of 1 reported patient
- Poorly ossified vertebraeHPOHP:0100856
- 1 of 1 reported patient
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Relative macrocephalyHPOHP:0004482
- 1 of 1 reported patient
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.
- VPS35LHGNC:24641
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: Ritscher-Schinzel syndrome 3
- Also called
- RTSC3