602875.1.5

Country

Oman
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Sex

Male

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003995.3:c.2869C>T1

Remarks

Father of 602875.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
602875.1.1OmanShort stature; Severe short-limb dwarfism; Cervical spina bifidaUnknownNoYespassed away at a few months of age.
602875.1.2OmanShort stature; Severe short-limb dwarfismUnknownNoYessibling of 602875.1.1
602875.1.3OmanShort stature; Severe short-limb dwarfismUnknownNoYessibling of 602875.1.1
602875.1.4OmanUnknownNomother of 602875.1.1
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