226980.1.1

Saudi Arabia

Death in infancy; Diabetic ketoacidosis; Spondyloepiphyseal dysplasia; Femur fracture; Proptosis; Wide anterior fontanel; High palate;

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004836.7:c.1570_1573del	2		Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus

The patient had a younger brother with Diabetes Mellitus but with normal skeletal development

Related Subjects

Subject Id	Country	Sex	Remarks
226980.1.2	Saudi Arabia	Male	Father of 226980.1.1
226980.1.3	Saudi Arabia	Female	Mother of 226980.1.1
226980.1.4	Saudi Arabia	Female	Sister of 226980.1.1