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autosomal dominant cutis laxa 3
Summary
- Synonym
-
- ADCL3
- Definition
- An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
- Super Class
- autosomal dominant cutis laxa
External Links
- Disease Ontology
- DOID:0070131
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54886 | Delta-1-pyrroline-5-carboxylate synthase |
