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| Cerebral Palsy v1.367 | TRIT1 |
Clare van Eyk gene: TRIT1 was added gene: TRIT1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIT1 were set to PMID: 39213953 Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, MIM#617873 Review for gene: TRIT1 was set to RED Added comment: Single individual with compound heterozygous variants (nonsense and missense) reported in a monocentric cohort study (PMID: 39213953). Clinically axial hypotonia, peripheral hypertonia, microcephaly, spastic CP, widened ventricular system, widened subarachnoid space. Sources: Literature |
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