Search results for "CASK"

29 hits were found for 'CASK'

# Family MCID Name MIFTS Score
1
CSK001 Cask-Related Disorders 6 13.148
2
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 27 8.787
3
FGS004 Fg Syndrome 4 16 6.572
4
c CSK002 Cask-Related Intellectual Disability 6 5.456
5
MCR010 Microcephaly 53 5.171
6
CRB045 Cerebellar Hypoplasia 40 5.171
7
FGS001 Fg Syndrome 32 5.115
8
MNT147 Mental Retardation 52 3.692
9
MNT193 Mental Retardation, with or Without Nystagmus 11 3.572
10
c PNT019 Pontocerebellar Hypoplasia 41 3.015
11
OHT001 Ohtahara Syndrome 40 2.970
12
NRG002 Neurogenic Bladder 53 2.916
13
URT036 Urethral Obstruction 31 2.916
14
TTH004 Tethered Spinal Cord Syndrome 26 2.916
15
DTR001 Detrusor Sphincter Dyssynergia 25 2.916
16
SBS002 Substernal Goiter 23 2.916
17
LWC001 Low Compliance Bladder 22 2.916
18
P EPL025 Epileptic Encephalopathy, Early Infantile, 2 67 2.062
19
INT223 Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 5 2.062
20
NRN002 Neuronitis 44 0.119
21
TTR001 Tetralogy of Fallot 75 0.084
22
P ESP024 Esophagitis 64 0.084
23
THR013 Thoracic Outlet Syndrome 52 0.084
24
c OPT004 Optic Atrophy 50 0.084
25
ADS002 Adie Syndrome 35 0.084
26
SYN053 Syndromic Diarrhea 34 0.084
27
c PNT012 Pontocerebellar Hypoplasia Type 3 28 0.084
28
HNM002 Hinman Syndrome 28 0.084
29
P INT105 Intellectual Disability Multi-Gene Panels 16 0.084