ablepharon macrostomia syndrome

Summary
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.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:0060550
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1636 ACE angiotensin I converting enzyme
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P12821 Angiotensin-converting enzyme

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024