162200.1

Country

Lebanon

HPO Terms

Cafe-au-lait spot; Soft skin; Abnormality of skin pigmentation; Joint hypermobility
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001042492.2:c.1019_1020del1
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