277300.2.1

Country

Palestine

HPO Terms

Abnormal form of the vertebral bodies; Abnormal intervertebral disk morphology

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016941.3:c.926G>A	2		Spondylocostal Dysostosis, Autosomal Recessive, 1

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Remarks

No details of the family were provided except for a chromatogram indicating a single affected patient and healthy parents who were heterozygous for the mutation.

References

Turnpenny et al, 2003;
Sparrow et al, 2002

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
277300.2.2	Palestine		Female			Healthy mother of the proband
277300.2.3	Palestine		Male			Healthy father of the proband

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