restrictive dermopathy 1

Findings

No curated finding names restrictive dermopathy 1 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 · Neonatal death · Fetal onset · Third trimester onset

HPO, annotations 2026-09-02

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.

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.

Where it sits

A kind of

• laminopathy
• multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• restrictive dermopathy

Resolves to: restrictive dermopathy 1

Also called

fetal hypokinesia sequence due to restrictive dermopathyfoetal hypokinesia sequence due to restrictive dermopathyhyperkeratosis-contracture syndromerestrictive dermopathy 1, lethaltight skin contracture syndrome, lethal