1
Q
Marfan Syndrome
A
Auto Dom
2
Q
Achondroplasia
A
Auto Dom or X Link Dom
3
Q
Huntingtons
A
Auto Dom
4
Q
Myotonic Dystrophy
A
Auto Dom
5
Q
QT Prolongation
A
Auto Dom
6
Q
Neurofibromatosis
A
Auto Dom
7
Q
Polycystic Kidney Disease
A
Auto Dom
8
Q
Beta Thalassemia
A
Auto Recc
9
Q
Cystic Fibrosis
A
Auto Recc
10
Q
Homocystinuria
A
Auto Recc
11
Q
Tay-Sachs
A
Auto Recc
12
Q
Maple Syrup Urine Disease
A
Auto Recc
13
Q
Phenylketonuria
A
Auto Recc
14
Q
Rett Syndrome
A
X-Link Dom
15
Q
Hypophosphatemia
A
X-Link Dom
16
Q
Incontinentia Pigmenti
A
X-Link Dom
17
Q
X-Linked Rickets
A
X-Link Dom
18
Q
Hemophilia
A
X-Link Recc
19
Q
DMD
A
X-Link Recc
20
Q
Fragile X
A
X-Link Recc
21
Q
Inborn Errors of Metabolism
A
X-Link Recc
22
Q
Red-Green Color Blindness
A
X-Link Recc
23
Q
X-Linked Ichtyosis
A
X-Link Recc
24
Q
LHON
A
Mitochondrial
25
AMGL
Y-Linked
26
TSPY
Y-Linked
27
AZF2
Y-Linked
