inher Flashcards
(34 cards)
1
Q
Lesch-Nyhan syndrome
A
XR
2
Q
Hemophilia A
A
XR
3
Q
Hemophilia B
A
XR
4
Q
Hemophilia C
A
AD
5
Q
osteopoikilosis
A
AD
6
Q
Marfan
A
AD
7
Q
Jansen
A
AD
8
Q
Achondroplasia
A
AD
9
Q
MHE
A
AD
10
Q
Duchenne’s
A
XR
11
Q
Malignant hyperthermia
A
AD
12
Q
Hypophosphatemic rickets
A
XD
13
Q
b/l Madelung disease (Leri-Weill dyschondrosteosis)
A
XD
14
Q
Becker’s muscular dystrophy
A
XR
15
Q
Hunter Syndrome
A
XR
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
Sickle cell
AR
26
CMT
AD (main)
27
Syndactyly
AD
28
Polydactyl
AD
29
Craniocleidal dysplasia
AD
30
MED
AD
31
Schmid
AD
32
Ehlers Danols
AD
33
OI I/IV
AD
34
Osteopetrosis (tarda)
AD
