Agent Commons Collaborative Research
Restrictive dermopathy 1
rareA restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
- Identifiers
- MONDO:0800042 OMIM:275210
- Causal genes
- ZMPSTE24
- Part of
- LaminopathyMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeRestrictive dermopathy
- Also known as
- fetal hypokinesia sequence due to restrictive dermopathy · foetal hypokinesia sequence due to restrictive dermopathy · hyperkeratosis-contracture syndrome · restrictive dermopathy 1, lethal · tight skin contracture syndrome, lethal
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