| description | Protein which, if defective, causes lacrimo-auriculo-dento-digital syndrome. Lacrimo-auriculo-dento-digital syndrome, a form of ectodermal dysplasia, is an autosomal dominant multiple congenital anomaly. It is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed |
Ontology Term --> All ancestors
Ontology Term --> All descendants
Ontology Term --> Direct children
Ontology Term --> Direct parents
