Term Name: | CODAS syndrome |
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Synonyms: | cerebral, ocular, dental, auricular, and skeletal syndrome, cerebro-oculo-dento-auriculo-skeletal syndrome |
Definition: | A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. |
Ontology: | Human Disease [DOID:0111274] ( DOID:0111274 ) |