Lacrimo-auriculo-dento-digital syndrome
cv_term_accession
KW-0953
canonical
uniprot_keyword
KW-0953
canonical
name
Lacrimo-auriculo-dento-digital syndrome
uniprot
synonym
LADD syndrome
uniprot
synonym
Lacrimoauriculodentodigital syndrome
uniprot
synonym
Levy-Hollister syndrome
uniprot
definition
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.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords