605298.1.1

Country

United Arab Emirates

HPO Terms

Neonatal respiratory distress; Feeding difficulties; Recurrent lower respiratory tract infections; Bilateral cryptorchidism; Stenosis of the external auditory canal; Strabismus; Hypermetropia; Hypotonia; Global developmental delay; Delayed speech and language development; Specific learning disability; Rhizomelia; Abnormal foot morphology; Scoliosis; Pectus carinatum; Brachydactyly; Midface retrusion; Radial bowing; Abnormal finger phalanx morphology; Narrow chest Platyspondyly; Lumbar hyperlordosis

Remarks

Proband
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
605298.1.2United Arab EmiratesGlobal developmental delay; Cognitive impairment; Rhizomelia; Short stature; Flexion contracture; Pes planus; Brachydactyly; Midface retrusion; Mandibular prognathia; Webbed neck; Radial bowingFemaleYesYesPaternal cousin of 605298.1.1
605298.1.GUnited Arab EmiratesUnknown5 unaffected relatives of 605298.1.1 and 605298.1.2
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