Search results for snap29

38 hits were found for snap29

# Family MCID Name MIFTS Score
1
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 49 7.335
2
P ICH004 Ichthyosis 54 3.860
3
c LKD010 Leukodystrophy, Hypomyelinating, 2 49 3.073
4
P LKD001 Leukodystrophy 59 2.934
5
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 57 2.885
6
c PLZ002 Pelizaeus-Merzbacher-Like Disease 36 2.291
7
DGR001 Digeorge Syndrome 64 2.192
8
P OPT048 Opitz-Gbbb Syndrome 46 2.103
9
P TTR001 Tetralogy of Fallot 70 2.040
10
P BRN019 Bernard-Soulier Syndrome 60 2.040
11
P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 57 2.040
12
VCS001 Vici Syndrome 54 2.040
13
MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43 2.040
14
VND005 Van Den Ende-Gupta Syndrome 41 2.040
15
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 40 2.040
16
TCL025 T-Cell Immunodeficiency with Thymic Aplasia 37 2.040
17
PLM029 Palmoplantar Keratosis 47 0.132
18
P MCR010 Microcephaly 59 0.108
19
P NRP001 Neuropathy 56 0.108
20
P SCH015 Schizophrenia 74 0.076
21
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.076
22
P DYS154 Dystonia 65 0.076
23
P PLZ001 Pelizaeus-Merzbacher Disease 64 0.076
24
GST033 Gestational Diabetes 61 0.076
25
EYD002 Eye Disease 58 0.076
26
P BPL003 Bipolar Disorder 56 0.076
27
PTH003 Pathologic Nystagmus 52 0.076
28
KRT009 Keratosis 51 0.076
29
SPS057 Spasticity 45 0.076
30
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.076
31
P HYP265 Hypotonia 43 0.076
32
c MJR024 Major Affective Disorder 9 41 0.076
33
c MJR022 Major Affective Disorder 8 38 0.076
34
P HYP700 Hypomyelinating Leukodystrophy 33 0.076
35
ISL061 Isolated Brachycephaly 31 0.076
36
PLY150 Polykaryocytosis Inducer 31 0.076
37
ERY069 Erythrokeratoderma ''en Cocardes'' 30 0.076
38
RRG043 Rare Genetic Skin Disease 22 0.076
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