200700.2.1

Country

Oman

HPO Terms

Aplasia/hypoplasia of the extremities; Short humerus; Hypoplasia of the ulna; Short femur; Aplasia/Hypoplasia of the tibia; Aplasia/Hypoplasia of the tarsal bones; Aplasia/Hypoplasia of metatarsal bones
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001319138.2:c.1144del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
200700.2.2OmanAplasia/hypoplasia of the extremities; Short humerus; Hypoplasia of the ulna; Short femur; Aplasia/Hypoplasia of the tibia; Aplasia/Hypoplasia of the tarsal bones; Aplasia/Hypoplasia of metatarsal bonesMaleYesYesBrother of 200700.2.1
200700.2.3OmanAplasia/hypoplasia of the extremities; Short humerus; Hypoplasia of the ulna; Short femur; Aplasia/Hypoplasia of the tibia; Aplasia/Hypoplasia of the tarsal bones; Aplasia/Hypoplasia of metatarsal bonesFemaleYesYesSister of 200700.2.1
200700.2.4OmanShort 1st metacarpal; Short middle phalanx of the 5th fingerMaleYesFather of 200700.2.1
200700.2.5OmanHallux valgusFemaleYesMother of 200700.2.1
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