DISEASES

Disease-gene associations mined from literature

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,  DOID:0060764,  autosomal recessive Robinow disease,  autosomal recessive Robinow disorder,  autosomal recessive Robinow syndromes ...