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Human Disease

ablepharon macrostomia syndrome

Term ID
DOID:0060550
Synonyms
  • poikiloderma with neutropenia, Clericuzio type
Definition
A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (3)
References
Ontology
Human Disease   ( DOID:0060550 )
Relationships
is a type of
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Genes Involved
Zebrafish Models