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| Cardiomyopathy_Paediatric v0.0 | PCCB |
Zornitza Stark gene: PCCB was added gene: PCCB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 27604308 Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; Propionicacidemia |
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| Cardiomyopathy_Paediatric v0.0 | PCCA |
Zornitza Stark gene: PCCA was added gene: PCCA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 27604308 Phenotypes for gene: PCCA were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic acidemia; Propionicacidemia 606054; Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; Propionicacidemia |
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