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615031.1.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Global developmental delay; Hypotonia
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_014844.5:c.3418T>G
2
NA
Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay
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Remarks
Sister of 615031.1.1
References
Neuser et al. 2021
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
615031.1.1
United Arab Emirates
Global developmental delay; Developmental regression; Hypotonia; Impaired smooth pursuit; Gait ataxia; Peripheral neuropathy; Myelopathy; Choking episodes; Leukoencephalopathy; Death in childhood
Male
Yes
Yes
Proband
615031.1.G
United Arab Emirates
Parents+2 silings of 615031.1.1 and 615031.1.2
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