Martsolf syndrome 2
MONDO:0030376Mondo
Findings
No curated finding names Martsolf syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
19 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.
- Broad nasal tipHPOHP:0000455
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Camptodactyly of fingerHPOHP:0100490
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Decreased body weightHPOHP:0004325
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Developmental cataractHPOHP:0000519
- 2 of 2 reported patients · Congenital onset
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hypogonadotropic hypogonadismHPOHP:0000044
- 1 of 1 reported patient
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- MacrotiaHPOHP:0000400
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
Show the remaining 7
- Overlapping toeHPOHP:0001845
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Spastic diplegiaHPOHP:0001264
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 2 of 3 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 3 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: Martsolf syndrome 2
- Also called
- MARTS2