312750.13

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Country

Lebanon

HPO Terms

Neurodevelopmental delay; Short stature; Plagiocephaly; Short neck; Hypotonia
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Sex

Unknown

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004992.3:c.1157_1200del1
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References

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