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DOID:0060550 - ablepharon macrostomia syndrome
Disease Ontology 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.
Synonyms: poikiloderma with neutropenia, Clericuzio type
Xenbase Genes
:
twist2
| MONDO:0008693 - ablepharon macrostomia syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)