Additional Disease Briefs

48,XYYY syndrome

Also known as: 48,XYYY

49,XXXXY syndrome

Also known as: 49,XXXXY, XXXXY syndrome

49,XXXYY syndrome

Also known as: 49, XXXYY syndrome, XXXYY syndrome

49,XYYYY syndrome

4p16.3 microduplication syndrome

Also known as: distal duplication 4p, distal trisomy 4p, telomeric duplication 4p, trisomy 4pter

4q25 proximal deletion syndrome

Also known as: proximal del(4)(q25), proximal monosomy 4q25

5-fluorouracil poisoning

Also known as: 5-fluorouracil intoxication

5-oxoprolinase deficiency

Also known as: 5-alpha-oxoprolinase deficiency, 5-oxoprolinase deficiency, 5-oxoprolinase deficiency (disease), OPLAHD, inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder, inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity, oxoprolinuria due to 5-oxoprolinase deficiency, oxoprolinuria due to oxoprolinase deficiency, rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity

5q14.3 microdeletion syndrome

Also known as: 5q14.3 deletion syndrome, Del(5)(q14.3), autosomal dominant intellectual disability 20, chromosome 5q14.3 deletion syndrome, monosomy 5q14.3

5q35 microduplication syndrome

Also known as: dup(5)(q35), trisomy 5q35