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cranioectodermal dysplasia 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.
Uniprot Description A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth.
Mondo Term and Equivalent IDs
MONDO:0013323:  cranioectodermal dysplasia 2
UMLS:C3150874: