Available Samples
REACH Biobank Participants and Sample Types
Gene Disorder
Study Participants
Genetic Disorder
Bohring-Opitz Syndrome
Shashi-Pena Syndrome
35
Bainbridge-Ropers Syndrome
KAT6A Syndrome
KAT6B Syndrome
BRPF-1 Syndrome
Coffin-Siris Syndrome
SETD1B Neurodevelopment Disorder
Myoclonic Encephalopathy
2
12
18
11
8
1
1
1
DNA
25
14
11
11
2
6
1
1
1
RNA
26
14
11
11
2
6
1
1
1
PBMC
19
15
3
0
1
6
1
1
1
Fibroblast
9
5
9
0
0
0
0
0
0