226980.2

Country

Saudi Arabia

HPO Terms

Death in infancy; Spondyloepiphyseal dysplasia; Generalized osteoporosis; Intellectual disability, severe; Type I diabetes mellitus; Renal insufficiency

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004836.7:c.2985+1G>A	2		Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus

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Remarks

The patient had a similarly affected brother

References

Al-Gazali et al. 1995;
Brickwood et al. 2003