Search results for "CASK"

28 hits were found for 'CASK'

# Family MCID Name MIFTS Score
1
CSK001 Cask-Related Disorders 4 13.213
2
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 23 8.303
3
FGS004 Fg Syndrome 4 21 6.950
4
c CSK002 Cask-Related Intellectual Disability 7 5.443
5
P MCR010 Microcephaly 49 5.251
6
CRB045 Cerebellar Hypoplasia 44 5.251
7
P MNT147 Mental Retardation 46 3.749
8
OHT001 Ohtahara Syndrome 40 3.674
9
XLN162 X-Linked Intellectual Disability, Najm Type 19 3.307
10
P PNT019 Pontocerebellar Hypoplasia 38 3.061
11
NRG002 Neurogenic Bladder 44 2.963
12
URT036 Urethral Obstruction 26 2.963
13
TTH004 Tethered Spinal Cord Syndrome 21 2.963
14
DTR001 Detrusor Sphincter Dyssynergia 20 2.963
15
SBS002 Substernal Goiter 19 2.963
16
LWC001 Low Compliance Bladder 18 2.963
17
INT223 Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 3 2.095
18
NRN002 Neuronitis 36 0.119
19
TTR001 Tetralogy of Fallot 67 0.084
20
P ESP024 Esophagitis 54 0.084
21
THR013 Thoracic Outlet Syndrome 45 0.084
22
P TRC086 Trichohepatoenteric Syndrome 1 39 0.084
23
ADS002 Adie Syndrome 30 0.084
24
c PNT037 Pontocerebellar Hypoplasia, Type 3 29 0.084
25
HNM002 Hinman Syndrome 26 0.084
26
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 28 0.084
27
OPT054 Opitz-Kaveggia Syndrome 20 0.084
28
P INT105 Intellectual Disability Multi-Gene Panels 15 0.084