WormBase Tree Display for DO_term: DOID:0070131
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| DOID:0070131 | Name | autosomal dominant cutis laxa 3 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | ADCL3 | |||
| Parent | Is_a | DOID:0070142 | |||
| DB_info | Database | OMIM | disease | 616603 | |
| Attribute_of | Gene_by_orthology | WBGene00011938 |
