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Smith-McCort dysplasia 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.
Uniprot Description A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.
Mondo Term and Equivalent IDs
MONDO:0014087:  Smith-McCort dysplasia 2
UMLS:C3714896: