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| Additional findings_Paediatric v0.2 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
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| Additional findings_Paediatric v0.2 | EDARADD | Zornitza Stark Added phenotypes Ectodermal dysplasia, hypohidrotic for gene: EDARADD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | EDAR | Zornitza Stark Added phenotypes Ectodermal dysplasia, hypohidrotic for gene: EDAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | EDA | Zornitza Stark Added phenotypes Ectodermal dysplasia, hypohidrotic for gene: EDA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | EDARADD |
Zornitza Stark gene: EDARADD was added gene: EDARADD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic |
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| Additional findings_Paediatric v0.0 | EDAR |
Zornitza Stark gene: EDAR was added gene: EDAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic |
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| Additional findings_Paediatric v0.0 | EDA |
Zornitza Stark gene: EDA was added gene: EDA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic |
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