Search results for "CASK"

27 hits were found for 'CASK'

# Family MCID Name MIFTS Score
1
FGS004 Fg Syndrome 4 16 13.068
2
CSK001 Cask-Related Disorders 5 12.801
3
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 26 8.092
4
MCR010 Microcephaly 54 5.199
5
c CSK002 Cask-Related Intellectual Disability 7 5.193
6
CRB045 Cerebellar Hypoplasia 39 5.169
7
P INT063 Intellectual Disability 50 4.208
8
MNT147 Mental Retardation 51 3.733
9
c PNT019 Pontocerebellar Hypoplasia 40 3.048
10
OHT001 Ohtahara Syndrome 40 3.002
11
NRG002 Neurogenic Bladder 51 2.947
12
URT036 Urethral Obstruction 31 2.947
13
TTH004 Tethered Spinal Cord Syndrome 26 2.947
14
DTR001 Detrusor Sphincter Dyssynergia 25 2.947
15
SBS002 Substernal Goiter 23 2.947
16
LWC001 Low Compliance Bladder 20 2.947
17
MNT193 Mental Retardation, with or Without Nystagmus 11 2.947
18
c EPL119 Epileptic Encephalopathy, Early Infantile, 17 34 2.084
19
INT223 Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 4 2.084
20
NRN002 Neuronitis 43 0.122
21
TTR001 Tetralogy of Fallot 74 0.086
22
P FCL005 Focal Segmental Glomerulosclerosis 72 0.086
23
P ESP024 Esophagitis 63 0.086
24
c OPT004 Optic Atrophy 50 0.086
25
c JVN024 Juvenile Hereditary Hemochromatosis 38 0.086
26
c PNT012 Pontocerebellar Hypoplasia Type 3 28 0.086
27
OTP003 Oto-Palatal-Digital Syndrome 16 0.086