restrictive dermopathy 2
MONDO:0030781Mondo
Findings
No curated finding names restrictive dermopathy 2 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 · Fetal onset
HPO, annotations 2026-09-02
Features
16 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.
- ProptosisHPOHP:0000520
- 2 of 2 reported patients
- Short claviclesHPOHP:0000894
- 2 of 2 reported patients
- Thickened skinHPOHP:0001072
- 2 of 2 reported patients
- Convex nasal ridgeHPOHP:0000444
- 1 of 2 reported patients
- CyanosisHPOHP:0000961
- 1 of 2 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
- Fetal distressHPOHP:0025116
- 1 of 2 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 2 reported patients
- Hypoplastic facial bonesHPOHP:0002692
- 1 of 2 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 2 reported patients
- MicroretrognathiaHPOHP:0000308
- 1 of 2 reported patients
Show the remaining 4
- Overtubulated long bonesHPOHP:0006391
- 1 of 2 reported patients
- Rectal prolapseHPOHP:0002035
- 1 of 2 reported patients
- Respiratory distressHPOHP:0002098
- 1 of 2 reported patients
- SclerodermaHPOHP:0100324
- 1 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.
- LMNAHGNC:6636
- Definitive · G2P · Autosomal recessive · 2019
- Limited · G2P · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: restrictive dermopathy 2
- Also called
- restrictive dermopathy 2, lethalRSDM2