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| Ataxia v2.135 | PYCR2 |
Sangavi Sivagnanasundram gene: PYCR2 was added gene: PYCR2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR2 were set to 27860360; 27130255 Phenotypes for gene: PYCR2 were set to hypomyelinating leukodystrophy 10, MONDO:0014632 Review for gene: PYCR2 was set to GREEN Added comment: PMID 27860360 reports only one individual with homozygous c.577G>A p.Val193Met variants presenting with progressive microcephaly, severe global developmental delay, failure to thrive, hypomyelinating leukodystrophy and an ataxic gait. PMID: 27130255 reports 11 families (10 consanguineous families) with homozygous PYCR2 variants presenting with a range of neurodevelopmental phenotypes including ataxia, failure to thrive, microcephaly, craniofacial dysmorphism, progressive psychomotor disability, hyperkinetic movements, and axial hypotonia with variable appendicular spasticity. Sources: Literature |
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