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Childhood onset dystonia, chorea or related movement disorder v0.244 | PNKP | Louise Daugherty Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures, and developmental delay, 613402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.108 | PNKP | Ellen McDonagh Phenotypes for gene: PNKP were changed from to Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.107 | PNKP | Ellen McDonagh Mode of inheritance for gene: PNKP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.0 | PNKP |
Ellen McDonagh gene: PNKP was added gene: PNKP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PNKP was set to |