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cranioectodermal dysplasia 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.
Uniprot Description A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails.
Mondo Term and Equivalent IDs
MONDO:0021093:  cranioectodermal dysplasia 1