Human Genetics: AD/AR/XAR/XAD/Others Flashcards
1
Q
CAH
A
AR
2
Q
Fragile X-Syndrome
A
XR,TNR
3
Q
Achondroplasia
A
AD
4
Q
Thanatoporic dysplasia
A
AD
5
Q
PKU
A
AR
6
Q
CF
A
AR
7
Q
Duchenne Muscular Dystrophy
A
XR
8
Q
Crouzon syndrome with acanthosis nigricans
A
AD
9
Q
Nonsyndromic craniosynostosis
A
AD
10
Q
Friedreich’s ataxia
A
AR
11
Q
Hemophilia A
A
XR
12
Q
Rett Syndrome
A
XR
13
Q
Gaucher ds
A
AR
14
Q
Color blindness
A
XR
15
Q
NF-1
A
AD
16
Q
NF-2
A
AD
17
Q
Huntington Disease
A
AD
18
Q
Myotonic Dystrophy
A
AD
19
Q
Sickle Cell ds
A
AR
20
Q
Adrenoekodystrophy
A
XR
21
Q
G6PD
A
XR
22
Q
Marfan Syndrome
A
AD
23
Q
Apert’s Syndrome
A
AD
24
Q
Tay Sach’s
A
AR
25
Q
Vitamin D resistant Rickets
A
XD
26
Q
Fanconi Anemia
A
AR
27
Q
Canvan Disease
A
AR
28
Q
Osteogenesis Imperfecta
A
AD
