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| Ataxia v2.132 | PIGK |
Sangavi Sivagnanasundram gene: PIGK was added gene: PIGK was added to Ataxia. Sources: Literature Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGK were set to 32220290 Phenotypes for gene: PIGK were set to neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MONDO:0030037 Review for gene: PIGK was set to GREEN Added comment: PMID 32220290 reports 5 of 8 individuals (four independent families) with biallelic PIGK variants presenting with developmental delay/intellectual disability, hypotonia, cerebellar atrophy, cerebellar ataxia, epilepsy and dysmorphic features. Ataxia is a prominent feature of this condition. Sources: Literature |
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