Disease

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Definition

An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.

Synonyms

EEC syndrome 3
EEC3

Cross References

Parent Terms

EEC syndrome

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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