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| Cerebral Palsy v1.370 | KIAA1109 | Zornitza Stark Marked gene: KIAA1109 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.370 | KIAA1109 | Zornitza Stark Gene: kiaa1109 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.370 | KIAA1109 | Zornitza Stark Classified gene: KIAA1109 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.370 | KIAA1109 | Zornitza Stark Gene: kiaa1109 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.367 | KIAA1109 |
Clare van Eyk gene: KIAA1109 was added gene: KIAA1109 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to PMID: 39213953 Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, MIM#617822 Review for gene: KIAA1109 was set to RED Added comment: Single individual with compound heterozygous variants (1 nonsense, 1 missense) reported in a monocentric cohort study (PMID: 39213953). Clinically West syndrome with evolution to Lennox-Gastaut, severe DD, ID, vision problems, microcephaly, feeding difficulties, spasticity, corpus callosum hypoplasia, cerebral atrophy, heterotopia. Sources: Literature |
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