restrictive dermopathy 1
A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0021106
laminopathy
is_a
MONDO:0031213
restrictive dermopathy
is_a
fetal hypokinesia sequence due to restrictive dermopathy
exact
foetal hypokinesia sequence due to restrictive dermopathy
exact
hyperkeratosis-contracture syndrome
exact
restrictive dermopathy
broad
restrictive dermopathy 1, lethal
exact
tight skin contracture syndrome, lethal
exact
SPAC3H1.05