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Metadata
DOID DOID:0060773
Name cleft lip-palate-ectodermal dysplasia syndrome
Definition An autosomal recessive disease 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.
https://www.ncbi.nlm.nih.gov/pubmed/3035184, https://www.ncbi.nlm.nih.gov/pubmed/9758630
Synonyms

cleft lip/palate-syndactyly-pili torti syndrome [EXACT]

CLPED1 [EXACT]

Margarita type of ectodermal dysplasia [EXACT]

syndactyly-ectodermal dysplasia-cleft/lip palate [EXACT]

Zlotogora-Zilberman-Tenenbaum syndrome [EXACT]

Xrefs

GARD:375

OMIM:225060

ORDO:3253

Relationships

is_a autosomal recessive disease

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