Available Samples
REACH Biobank Participants and Sample Types
Gene Disorder
Study Participants
Genetic Disorder
Bohring-Opitz Syndrome
Shashi-Pena Syndrome
42
Bainbridge-Ropers Syndrome
KAT6A Syndrome
KAT6B Syndrome
BRPF-1 Syndrome
Coffin-Siris Syndrome
SETD1B Neurodevelopment Disorder
Myoclonic Encephalopathy
5
31
18
11
8
1
1
1
DNA
23
9
11
11
3
6
1
1
1
RNA
24
9
11
11
1
6
1
1
1
PBMC
17
8
3
0
2
6
1
1
1
Fibroblast
8
2
9
0
0
0
0
0
0