259450.3

Country

United Arab Emirates

HPO Terms

Arthrogryposis multiplex congenita; Global developmental delay; Generalized hypotonia; Macrocephaly; Metopic synostosis; Ventricular septal defect; Hearing impairment; Abnormal facial shape
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_021939.4:c.354del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
259450.1United Arab EmiratesMultiple prenatal fractures; Osteopenia; Scoliosis; Wormian bonesMaleYesYes
259450.2United Arab EmiratesKyphosis; Spinal cord compression; Recurrent fractures; Brachycephaly; KyphoscoliosisFemaleYes
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