135100.1

Country

Saudi Arabia

HPO Terms

Ectopic ossification; Triangular face; Ptosis; Microtia; Overfolded helix; Foot polydactyly
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001105.4:c.617G>A1NA

Remarks

de novo mutation
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