251450.9

Country

Yemen

HPO Terms

Growth delay; Joint dislocation; Bifid distal phalanx of the thumb; Talipes equinovarus; Narrow chest; Craniosynostosis; Patent foramen ovale; Patent ductus arteriosus
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Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001159773.2:c.531_532del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
251450.1YemenSkeletal dysplasia; Macrocephaly at birth; Short stature; Wide anterior fontanelMaleYes
251450.2YemenBrachydactyly; Acromelia; Bilateral talipes equinovarus; Micrognathia; Narrow palpebral fissureFemaleYesYes
251450.3YemenSkeletal dysplasia; Low-set ears; Abnormality of the outer ear; Narrow nasal bridgeFemaleYesYes
251450.5YemenSevere short stature; Multiple joint dislocationFemaleYes
251450.6YemenLimb undergrowth; Narrow chest; Neonatal respiratory distress; Round face; MicrognathiaMaleYes
251450.7YemenIntrauterine growth retardation; Large joint dislocations; Monkey wrench femoral neck; Talipes equinovarus; Radial club hand; Therapeutic abortionNoYes
251450.8YemenGrowth delay; Joint dislocation; Abnormality of the hand; Retrognathia; GlaucomaYes
251450.10YemenIntellectual disability; Hyperlordosis; Joint dislocationMaleYesPatient from 'family 7' in the publication
251450.11YemenJoint dislocation; Death in infancyMaleYesPatient from 'family 8' in the publication
251450.12YemenSkeletal dysplasiaYesFetus
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