brachyolmia, Maroteaux type
Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.
MONDO:0015262
brachyolmia
is_a
BCYM2
related
brachyolmia type 2
exact
brachyolmia, Maroteaux type
exact