212065.2

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Country

Lebanon

HPO Terms

Global developmental delay; Hypotonia; Failure to thrive; Microcephaly; Synophrys; Abnormality of the outer ear; Depressed nasal bridge; Esotropia; Hypermetropia; Deep palmar crease
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Sex

Female

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000303.3:c.422G>A1
NM_000303.3:c.127G>A1
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References

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