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Disease Ontology Browser
ablepharon macrostomia syndrome (DOID:0060550)
Alliance: disease page
Synonyms: poikiloderma with neutropenia, Clericuzio type
Alt IDs: OMIM:200110, MESH:C535557, ORDO:920, UMLS_CUI:C1860224
Definition: A syndrome characterized by by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory