Disease - Cranioectodermal dysplasia 2
- DefinitionA 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.
- AcronymCED2
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Browse 1 entry- WD repeat-containing protein 35 · Gene: WDR35 (IFT121, KIAA1336) · Homo sapiens (Human) · 1181 amino acids · Evidence at protein level · Annotation score: 5/5