Metadata | |
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ID | DOID:0070131 |
Name | autosomal dominant cutis laxa 3 |
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. https://www.ncbi.nlm.nih.gov/pubmed/26320891 |
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Synonyms |
ADCL3 [EXACT] |
Parent Relationships |