inher Flashcards

1
Q

Lesch-Nyhan syndrome

A

XR

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2
Q

Hemophilia A

A

XR

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3
Q

Hemophilia B

A

XR

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4
Q

Hemophilia C

A

AD

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5
Q

osteopoikilosis

A

AD

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6
Q

Marfan

A

AD

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7
Q

Jansen

A

AD

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8
Q

Achondroplasia

A

AD

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9
Q

MHE

A

AD

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10
Q

Duchenne’s

A

XR

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11
Q

Malignant hyperthermia

A

AD

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12
Q

Hypophosphatemic rickets

A

XD

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13
Q

b/l Madelung disease (Leri-Weill dyschondrosteosis)

A

XD

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14
Q

Becker’s muscular dystrophy

A

XR

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15
Q

Hunter Syndrome

A

XR

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16
Q

SED tarda

A

XR

17
Q

Freidrich’s Ataxia

A

AR

18
Q

Gaucher’s

A

AR

19
Q

OI II/III

A

AR

20
Q

OI I

A

AD

21
Q

Diastrophic dysplasia

A

AR

22
Q

Hypophosphatasia

A

AR

23
Q

Osteopetrosis (infantile)

A

AR

24
Q

SMA

A

AR

25
Q

Sickle cell

A

AR

26
Q

CMT

A

AD (main)

27
Q

Syndactyly

A

AD

28
Q

Polydactyl

A

AD

29
Q

Craniocleidal dysplasia

A

AD

30
Q

MED

A

AD

31
Q

Schmid

A

AD

32
Q

Ehlers Danols

A

AD

33
Q

OI I/IV

A

AD

34
Q

Osteopetrosis (tarda)

A

AD