187600.1

Country

United Arab Emirates

HPO Terms

Severe limb shortening; Redundant skin

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000142.4:c.742C>T1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
187600.3United Arab EmiratesSkeletal dysplasia; Depressed nasal bridge; Short neck; Narrow chestFemaleYesNoDe novo mutation
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