Available Samples
REACH Biobank Participants and Sample Types
Gene Disorder
Study Participants
Genetic Disorder
Bohring-Opitz Syndrome
Shashi-Pena Syndrome
43
Bainbridge-Ropers Syndrome
KAT6A Syndrome
KAT6B Syndrome
BRPF-1 Syndrome
Coffin-Siris Syndrome
SETD1B Neurodevelopment Disorder
Myoclonic Encephalopathy
SETDB1 Syndrome
5
33
18
13
8
1
1
3
1
DNA
58
44
14
11
9
6
5
1
6
2
RNA
62
44
14
11
9
6
5
1
6
2
PBMC
45
43
6
0
6
6
5
1
6
2
Fibroblast
21
8
9
0
0
0
0
0
0
0
Kleefstra Syndrome 2
2
2
2
2
0
Claes-Jensen Syndrome
2
2
2
2
0
Weaver Syndrome
1
1
1
1
0
Rubinstein-Taybi Syndrome
1
1
1
1
0
Kabuki Syndrome
1
1
1
1
0
Diets-Jongmans Syndrome
1
1
1
1
0
FOXP1 Syndrome
1
1
1
0
0
ODLURA Syndrome
1
1
1
0
0