614067.1

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Country

Lebanon

HPO Terms

Abnormality of the nervous system; Abnormality of the thyroid gland; Intellectual disability; Global developmental delay; Motor delay; Peripheral neuropathy
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_007077.4:c.c.138+3_138+6del2
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References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.