602875.3.1

Country

Lebanon

HPO Terms

Short stature; Severe short-limb dwarfism;
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Sex

Unknown

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003995.3:c.3059delG2

Remarks

This patient may have other affected siblings.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
602875.3.2LebanonFemaleNoMother of patient 603629.3.1
602875.3.3LebanonMaleNoFather of patient 603629.3.1
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