265000.4.1

Country

Lebanon

HPO Terms

Decreased fetal movement; Arthrogryposis multiplex congenita; Pterygium; Short stature; Abnormal facial shape; High palate; Arachnodactyly; Cryptorchidism
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005199.5:c.1249G>C2

Remarks

Proband. He also had an affected younger brother who was deceased.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
265000.4.2LebanonArthrogryposis multiplex congenita; Pterygium; Short stature; Abnormal facial shape; High palate; ArachnodactylyFemaleYesYesSister of 265000.4.1
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