Stankiewicz-Isidor syndrome
MONDO:0054591Mondo
Findings
No curated finding names Stankiewicz-Isidor 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
- Congenital onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
85 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.
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 1 reported patient
- AcneHPOHP:0001061
- 3 of 3 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- ApathyHPOHP:0000741
- 2 of 2 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 3 of 3 reported patients
- Broad foreheadHPOHP:0000337
- 2 of 2 reported patients
- EsodeviationHPOHP:0020045
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Genu valgumHPOHP:0002857
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
Show the remaining 73
- High palateHPOHP:0000218
- 2 of 2 reported patients
- Hypoplastic distal radial epiphysesHPOHP:0006386
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- IrritabilityHPOHP:0000737
- 1 of 1 reported patient
- KyphoscoliosisHPOHP:0002751
- 2 of 2 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.
- PSMD12HGNC:9557
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025