Rauch-Steindl syndrome
MONDO:0859219Mondo
Findings
No curated finding names Rauch-Steindl syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Miscarriage · Fetal onset
HPO, annotations 2026-09-02
Features
41 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.
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- Almond-shaped palpebral fissureHPOHP:0007874
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- Attached earlobeHPOHP:0009907
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
Show the remaining 29
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 6 of 6 reported patients
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 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.
- NSD2HGNC:12766
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
Where it sits
- A kind of