610968.2.1

Country

Saudi Arabia

HPO Terms

Limb joint contracture; Osteopenia; Wormian bones; Fractures of the long bones
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_021939.4:c.1016_1023dup2NA

Remarks

Patient's parents are from the same village.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610968.2.2Saudi ArabiaLimb joint contracture; Osteopenia; Wormian bones; Fractures of the long bonesMaleYesRelative of 610968.2.1; patient's parents are from the same village.
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