605298.1.2

Country

United Arab Emirates

HPO Terms

Global developmental delay; Cognitive impairment; Rhizomelia; Short stature; Flexion contracture; Pes planus; Brachydactyly; Midface retrusion; Mandibular prognathia; Webbed neck; Radial bowing

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006052.2:c.178G>T	2		Neurodevelopmental Deficit, Growth Failure, and Skeletal Abnormalities

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Remarks

Paternal cousin of 605298.1.1

References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
605298.1.1	United Arab Emirates	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	Male	Yes	Yes	Proband