Martsolf syndrome 1
Findings
No curated finding names Martsolf syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
Definition from the Mondo Disease Ontology (MONDO:8000008), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
60 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.
- Avascular necrosis of the capital femoral epiphysisHPOHP:0005743
- 2 of 2 reported patients
- BrachycephalyHPOHP:0000248
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- ClonusHPOHP:0002169
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients · Congenital onset · Male
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Delayed ability to sitHPOHP:0025336
Show the remaining 48
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Hypoplasia of the maxillaHPOHP:0000327
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Low posterior hairlineHPOHP:0002162
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- MicropenisHPOHP:0000054
- 2 of 2 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.
- RAB3GAP2HGNC:17168
- Definitive · G2P · Autosomal recessive · 2019
Where it sits
Other names
2 names
Resolves to: Martsolf syndrome 1
- Also called
- cataract-intellectual disability-hypogonadism syndromecataract-mental retardation-hypogonadism