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| Fetal anomalies v1.66 | CHKA | Zornitza Stark Phenotypes for gene: CHKA were changed from neurodevelopmental disorder, CHKA-related MONDO#0700092 to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.65 | CHKA | Zornitza Stark reviewed gene: CHKA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4310 | CHKA | Zornitza Stark Marked gene: CHKA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4310 | CHKA | Zornitza Stark Gene: chka has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4310 | CHKA | Zornitza Stark Classified gene: CHKA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4310 | CHKA | Zornitza Stark Gene: chka has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | CHKA |
Ain Roesley gene: CHKA was added gene: CHKA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKA were set to 35202461 Phenotypes for gene: CHKA were set to neurodevelopmental disorder, CHKA-related MONDO#0700092 Review for gene: CHKA was set to RED gene: CHKA was marked as current diagnostic Added comment: post-natal microcephaly and short stature. Symptoms which were present within the first few months post birth include developmental delay and seizures Sources: Literature |
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