atelosteogenesis type II
A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0000226
mineral metabolism disease
is_a
MONDO:0000389
atelosteogenesis
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0100592
SLC26A2-related skeletal dysplasia
is_a
AO2
exact
AOII
exact
atelosteogenesis II
related
atelosteogenesis type 2
exact
atelosteogenesis type II
exact
atelosteogenesis, type II
related
neonatal osseous dysplasia type 1
exact
SPAC869.05c SPCC320.05 SPBC3H7.02