Human genes for autosomal recessive Robinow syndrome
Autosomal recessive Robinow syndrome [DOID:0060764]
A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
Synonyms: autosomal recessive Robinow syndrome, autosomal recessive Robinow disease, autosomal recessive Robinow disorder, autosomal recessive Robinow syndromes, DOID:0060764 ...