606054.1

Country

Lebanon

HPO Terms

Hypotonia; Motor delay; Encephalopathy; Failure to thrive; Abnormal hair morphology; Developmental regression; Peripheral neuropathy; Abnormal brainstem MRI signal intensity
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000282.3c.1209+3A>G2

Remarks

Has affected siblings
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