1-10 Flashcards
1
Q
Familial Alzheimer
A
AD
2
Q
Marfan Syndrome
A
AD
3
Q
Familial Hypercholesterolemia
A
AD
4
Q
Acondroplasia Dwarfism
A
AD
5
Q
Polydactyly
A
AD
6
Q
Syndactyly
A
AD
7
Q
Huntington
A
AD
8
Q
Ectrodactyly
A
AD
9
Q
Brachy dactyly syndrome
A
AD
10
Q
Neurofibromatosis 1 (NF1)
Neurofibromatosis 2 (NF2)
A
AD
11
Q
Osteogenesis inpefecta
A
AD
12
Q
Hurler syndrome
A
AR
13
Q
Sheie شای
A
AR
14
Q
Beta thalassemia
A
AR
15
Q
a-thalassemia
A
AR
16
Q
Gaucher’s disease گوشر
A
AR
17
Q
PKU فنیل کتونوری
A
AR
18
Q
Alkaptonuria or black urine disease
A
AR
19
Q
Galactosemia
A
AR
20
Q
Sickle cell anemia
کم خونی داسی شکل
A
AR
21
Q
Tay-Sachs disease
تی ساکس
A
AR
22
Q
Cystic fibrosis
A
AR
23
Q
Albinism
A
AR
24
Q
Ataxia-telangectasia
آتاکسی تلانژکتازی
A
AR
25
Bloom syndrome
AR
26
Color blindness or color vision deficiency (CVD)
دالتونیسم نسبی
XR
27
DMD دیستروفی عضلانی دوشن
XR
28
BMD دیستروفی عضلانی بکر
XR
29
Testicular feminization زن نمای بیضه دار
XR
30
Agammaglobulinemia - X linked
XR
31
Lesch-nyhan syndrome
XR
32
Vitamin D-resistant rickets or
Hypo phophatemia rickets
راشیتیسم مقاوم به ویتامین D
XD
33
Rett syndrome
XD
34
Incontinentia pigmenti Type 2 or IP2
XD
35
Charcot-marie-tooth
X-linked
XD
36
Focal dermal hypoplasia or
Goltz syndrome
XD
