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612780.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Seizure; Sensorineural hearing impairment; Ataxia; Mild global developmental delay; Abnormal urinary electrolyte concentration; Renal tubular dysfunction
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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_002241.4:c.847C>G
2
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance
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Remarks
Similarly affected sister
References
Saleh et al. 2021
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