otopalatodigital syndrome type 2
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
MONDO:0019027
otopalatodigital syndrome
is_a
Andre syndrome
related
FPO
related
OPD 2 syndrome
exact
OPD II syndrome
exact
OPD syndrome 2
exact
OPD2
related
Otopalatodigital Syndrome Type I and II
exact
cranio-oro-digital syndrome
related
oto-palato-digital syndrome type 2
related
otopalatodigital syndrome, type II
related
otopalatodigital syndrome, type II, X-linked dominant
exact