HBRF

610188.10

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Country

United Arab Emirates

HPO Terms

Molar tooth sign on MRI; Nephronophthisis
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Sex

Unknown

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_025114.4:c.5668G>T 2
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References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
610188.4 United Arab Emirates Global developmental delay; Intellectual disability; Seizure; Abnormal posterior cranial fossa morphology Female Yes Yes Affected sibling
610188.5 United Arab Emirates Generalized hypotonia; Global developmental delay; Visual impairment; Nystagmus Female Yes
610188.6 United Arab Emirates Retinal dystrophy; Nephronophthisis; Molar tooth sign on MRI Female Yes
610188.7 United Arab Emirates Global developmental delay; Molar tooth sign on MRI Female Yes Yes
610188.8 United Arab Emirates Global developmental delay; Molar tooth sign on MRI Female Yes Yes
610188.9 United Arab Emirates Molar tooth sign on MRI Unknown
610188.11 United Arab Emirates Ataxia; Molar tooth sign on MRI; Global developmental delay; Hypotonia Unknown Yes Patient from 'JS_F11' family in the publication
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.