Restrictive dermopathy 1
Restrictive dermopathy 1
Definition
A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
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 — per MONDO