277700.1

Country

Lebanon

HPO Terms

Hypotonia; Aplasia/Hypoplasia involving the nose; Progeroid facial appearance; Microretrognathia; Cutis laxa
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Sex

Unknown

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000553.5:c.95A>G1
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