Nizon-Isidor syndrome
MONDO:0030030Mondo
Findings
No curated finding names Nizon-Isidor 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
44 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.
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Motor delayHPOHP:0001270
- 4 of 6 reported patients
- Aggressive behaviorHPOHP:0000718
- 4 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 4 of 7 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 7 reported patients
- ConstipationHPOHP:0002019
- 3 of 7 reported patients
- Sleep disturbanceHPOHP:0002360
- 3 of 7 reported patients
- Upper eyelid edemaHPOHP:0012724
- 3 of 7 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 6 reported patients
- AnxietyHPOHP:0000739
- 2 of 7 reported patients
- Bulbous noseHPOHP:0000414
- 2 of 7 reported patients
Show the remaining 32
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 7 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 2 of 7 reported patients
- High, narrow palateHPOHP:0002705
- 2 of 7 reported patients
- HypermetropiaHPOHP:0000540
- 2 of 7 reported patients
- Long fingersHPOHP:0100807
- 2 of 7 reported patients
- Prominent nasal bridgeHPOHP:0000426
- 2 of 7 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.
- MED12LHGNC:16050
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · Illumina · Autosomal dominant · 2020
- Moderate · Illumina · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: Nizon-Isidor syndrome
- Also called
- NIZIDS