Ritscher-Schinzel syndrome 4
MONDO:0030331Mondo
Findings
No curated finding names Ritscher-Schinzel syndrome 4 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
51 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.
- Agenesis of corpus callosumHPOHP:0001274
- 8 of 8 reported patients
- Delayed ability to sitHPOHP:0025336
- 8 of 8 reported patients
- Delayed ability to walkHPOHP:0031936
- 8 of 8 reported patients
- HypotoniaHPOHP:0001252
- 8 of 8 reported patients
- Impaired toileting abilityHPOHP:0031061
- 8 of 8 reported patients
- Severe global developmental delayHPOHP:0011344
- 8 of 8 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 8 of 8 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 6 of 7 reported patients
- Absent speechHPOHP:0001344
- 6 of 8 reported patients
- DysphagiaHPOHP:0002015
- 6 of 8 reported patients
- Dysgenesis of the hippocampusHPOHP:0025101
- 2 of 3 reported patients
- MicropenisHPOHP:0000054
- 2 of 3 reported patients · Male
Show the remaining 39
- ScoliosisHPOHP:0002650
- 5 of 8 reported patients
- StrabismusHPOHP:0000486
- 5 of 8 reported patients
- Aggressive behaviorHPOHP:0000718
- 4 of 7 reported patients
- AtaxiaHPOHP:0001251
- 3 of 6 reported patients
- Short statureHPOHP:0004322
- 3 of 8 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients · Male
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.
- DPYSL5HGNC:20637
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Ritscher-Schinzel syndrome 4
- Also called
- RTSC4