GARD Rare Disease Listings

46,XX testicular disorder of sex development

Also known as: 46,XX testicular DSD 46,XX gonadal dysgenesis XX male syndrome 46, XX gonadal sex reversal XX sex reversal

47 XXX syndrome

Also known as: Trisomy X Triple X syndrome Triple-X female XXX syndrome Triple-X chromosome syndrome Triplo X syndrome

47, XYY syndrome

Also known as: YY syndrome XYY syndrome XYY Karyotype Jacobs syndrome 47,XYY syndrome Disomy Y Double Y Double Y syndrome Y disomy

48,XXXY syndrome

Also known as: XXXY syndrome

48,XXYY syndrome

Also known as: 48,XXYY Klinefelter syndrome 48,XXYY variant of Klinefelter's syndrome XXYY syndrome

48,XYYY

49, XXXXY syndrome

Also known as: XXXXY syndrome 49,XXXXY

49, XXXYY syndrome

Also known as: XXXYY syndrome

49,XXXXX syndrome

Also known as: Pentasomy X Chromosome XXXXX syndrome Penta-X syndrome Pentasomy X syndrome Chromosome X pentasomy

5-alpha reductase deficiency

Also known as: Pseudovaginal perineoscrotal hypospadias PPSH Male pseudohermaphroditism due to 5-alpha-reductase deficiency Familial incomplete male pseudohermaphroditism, type 2

5-Nucleotidase syndrome

Also known as: 5'NT syndrome

5-oxoprolinase deficiency

Also known as: Oxoprolinuria due to 5-oxoprolinase deficiency 5-alpha-oxoprolinase deficiency

5q- syndrome

Also known as: 5q deletion syndrome Refractory macrocytic anemia due to 5q deletion MAR 5q syndrome 5q minus syndrome

5q14.3 microdeletion syndrome

Also known as: Autosomal dominant intellectual disability 20 Chromosome 5q14.3 deletion syndrome Monosomy 5q14.3 Del(5)(q14.3) Mental retardation, autosomal dominant 20 5q14.3 deletion syndrome

6-pyruvoyl-tetrahydropterin synthase deficiency

Also known as: Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency Hyperphenylalanemia, BH4-deficient, A PTS Deficiency