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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cleft lip-palate-ectodermal dysplasia syndrome
Summary
- Synonym
-
- CLPED1
- Margarita type of ectodermal dysplasia
- Zlotogora-Zilberman-Tenenbaum syndrome
- cleft lip/palate-syndactyly-pili torti syndrome
- syndactyly-ectodermal dysplasia-cleft/lip palate
- Definition
- A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060773
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
