USABO DISEASES

Tay-Sachs disease (1)

Hexosaminidase A deficiency GM2 accumulation

Huntington disease (2)

CAG repeat in HTT gene chorea

Duchenne muscular dystrophy (3)

X-linked dystrophin mutation progressive muscle weakness

Duchenne muscular dystrophy (4)

X-linked dystrophin mutation progressive muscle weakness

Duchenne muscular dystrophy (5)

X-linked dystrophin mutation progressive muscle weakness

Lesch-Nyhan syndrome (6)

X-linked recessive HGPRT deficiency hyperuricemia

Cystic fibrosis (7)

Autosomal recessive CFTR mutation chloride channel defect

Alpha-1 antitrypsin deficiency (8)

misfolded AAT protein early-onset emphysema

Duchenne muscular dystrophy (9)

X-linked dystrophin mutation progressive muscle weakness

Wilson disease (10)

ATP7B mutation copper accumulation

Marfan syndrome (11)

FBN1 mutation tall stature

Wilson disease (12)

ATP7B mutation copper accumulation

Fragile X syndrome (13)

X-linked CGG repeat in FMR1 intellectual disability

Phenylketonuria (14)

phenylalanine hydroxylase deficiency intellectual disability

Lesch-Nyhan syndrome (15)

X-linked recessive HGPRT deficiency hyperuricemia

Lesch-Nyhan syndrome (16)

X-linked recessive HGPRT deficiency hyperuricemia

Duchenne muscular dystrophy (17)

X-linked dystrophin mutation progressive muscle weakness

Tay-Sachs disease (18)

Hexosaminidase A deficiency GM2 accumulation

Marfan syndrome (19)

FBN1 mutation tall stature

Marfan syndrome (20)

FBN1 mutation tall stature

Cystic fibrosis (21)

Autosomal recessive CFTR mutation chloride channel defect

Alpha-1 antitrypsin deficiency (22)

misfolded AAT protein early-onset emphysema

Cystic fibrosis (23)

Autosomal recessive CFTR mutation chloride channel defect

Cystic fibrosis (24)

Autosomal recessive CFTR mutation chloride channel defect

Phenylketonuria (25)

phenylalanine hydroxylase deficiency intellectual disability

Lesch-Nyhan syndrome (26)

X-linked recessive HGPRT deficiency hyperuricemia

Tay-Sachs disease (27)

Hexosaminidase A deficiency GM2 accumulation

Fragile X syndrome (28)

X-linked CGG repeat in FMR1 intellectual disability

Lesch-Nyhan syndrome (29)

X-linked recessive HGPRT deficiency hyperuricemia

Cystic fibrosis (30)

Autosomal recessive CFTR mutation chloride channel defect

Wilson disease (31)

ATP7B mutation copper accumulation

Marfan syndrome (32)

FBN1 mutation tall stature

Fragile X syndrome (33)

X-linked CGG repeat in FMR1 intellectual disability

Phenylketonuria (34)

phenylalanine hydroxylase deficiency intellectual disability

Lesch-Nyhan syndrome (35)

X-linked recessive HGPRT deficiency hyperuricemia

Marfan syndrome (36)

FBN1 mutation tall stature

Lesch-Nyhan syndrome (37)

X-linked recessive HGPRT deficiency hyperuricemia

Huntington disease (38)

CAG repeat in HTT gene chorea

Lesch-Nyhan syndrome (39)

X-linked recessive HGPRT deficiency hyperuricemia

Tay-Sachs disease (40)

Hexosaminidase A deficiency GM2 accumulation

Phenylketonuria (41)

phenylalanine hydroxylase deficiency intellectual disability

Cystic fibrosis (42)

Autosomal recessive CFTR mutation chloride channel defect

Alpha-1 antitrypsin deficiency (43)

misfolded AAT protein early-onset emphysema

Phenylketonuria (44)

phenylalanine hydroxylase deficiency intellectual disability

Lesch-Nyhan syndrome (45)

X-linked recessive HGPRT deficiency hyperuricemia

Phenylketonuria (46)

phenylalanine hydroxylase deficiency intellectual disability

Lesch-Nyhan syndrome (47)

X-linked recessive HGPRT deficiency hyperuricemia

Tay-Sachs disease (48)

Hexosaminidase A deficiency GM2 accumulation

Duchenne muscular dystrophy (49)

X-linked dystrophin mutation progressive muscle weakness

Phenylketonuria (50)

phenylalanine hydroxylase deficiency intellectual disability

Wilson disease (51)

ATP7B mutation copper accumulation

Marfan syndrome (52)

FBN1 mutation tall stature

Duchenne muscular dystrophy (53)

X-linked dystrophin mutation progressive muscle weakness

Huntington disease (54)

CAG repeat in HTT gene chorea

Phenylketonuria (55)

phenylalanine hydroxylase deficiency intellectual disability

Duchenne muscular dystrophy (56)

X-linked dystrophin mutation progressive muscle weakness

Fragile X syndrome (57)

X-linked CGG repeat in FMR1 intellectual disability

Alpha-1 antitrypsin deficiency (58)

misfolded AAT protein early-onset emphysema

Tay-Sachs disease (59)

Hexosaminidase A deficiency GM2 accumulation

Phenylketonuria (60)

phenylalanine hydroxylase deficiency intellectual disability

Marfan syndrome (61)

FBN1 mutation tall stature

Marfan syndrome (62)

FBN1 mutation tall stature

Wilson disease (63)

ATP7B mutation copper accumulation

Tay-Sachs disease (64)

Hexosaminidase A deficiency GM2 accumulation

Phenylketonuria (65)

phenylalanine hydroxylase deficiency intellectual disability

Marfan syndrome (66)

FBN1 mutation tall stature

Phenylketonuria (67)

phenylalanine hydroxylase deficiency intellectual disability

Duchenne muscular dystrophy (68)

X-linked dystrophin mutation progressive muscle weakness

Marfan syndrome (69)

FBN1 mutation tall stature

Lesch-Nyhan syndrome (70)

X-linked recessive HGPRT deficiency hyperuricemia

Wilson disease (71)

ATP7B mutation copper accumulation

Phenylketonuria (72)

phenylalanine hydroxylase deficiency intellectual disability

Marfan syndrome (73)

FBN1 mutation tall stature

Fragile X syndrome (74)

X-linked CGG repeat in FMR1 intellectual disability

Wilson disease (75)

ATP7B mutation copper accumulation

Cystic fibrosis (76)

Autosomal recessive CFTR mutation chloride channel defect

Huntington disease (77)

CAG repeat in HTT gene chorea

Duchenne muscular dystrophy (78)

X-linked dystrophin mutation progressive muscle weakness

Marfan syndrome (79)

FBN1 mutation tall stature

Lesch-Nyhan syndrome (80)

X-linked recessive HGPRT deficiency hyperuricemia

Fragile X syndrome (81)

X-linked CGG repeat in FMR1 intellectual disability

Phenylketonuria (82)

phenylalanine hydroxylase deficiency intellectual disability

Wilson disease (83)

ATP7B mutation copper accumulation

Lesch-Nyhan syndrome (84)

X-linked recessive HGPRT deficiency hyperuricemia

Marfan syndrome (85)

FBN1 mutation tall stature

Wilson disease (86)

ATP7B mutation copper accumulation

Tay-Sachs disease (87)

Hexosaminidase A deficiency GM2 accumulation

Lesch-Nyhan syndrome (88)

X-linked recessive HGPRT deficiency hyperuricemia

Huntington disease (89)

CAG repeat in HTT gene chorea

Lesch-Nyhan syndrome (90)

X-linked recessive HGPRT deficiency hyperuricemia

Marfan syndrome (91)

FBN1 mutation tall stature

Cystic fibrosis (92)

Autosomal recessive CFTR mutation chloride channel defect

Phenylketonuria (93)

phenylalanine hydroxylase deficiency intellectual disability

Tay-Sachs disease (94)

Hexosaminidase A deficiency GM2 accumulation

Huntington disease (95)

CAG repeat in HTT gene chorea

Duchenne muscular dystrophy (96)

X-linked dystrophin mutation progressive muscle weakness

Wilson disease (97)

ATP7B mutation copper accumulation

Huntington disease (98)

CAG repeat in HTT gene chorea

Tay-Sachs disease (99)

Hexosaminidase A deficiency GM2 accumulation

Marfan syndrome (100)

FBN1 mutation tall stature