Search results for CDK5RAP2

43 hits were found for CDK5RAP2

# Family MCID Name MIFTS Score
1
c MCR248 Microcephaly 3, Primary, Autosomal Recessive 42 5.647
2
P MCR010 Microcephaly 58 5.147
3
c PRM212 Primary Microcephaly 41 5.031
4
c PRM031 Primary Autosomal Recessive Microcephaly 47 4.119
5
P ALZ034 Alzheimer Disease 88 3.286
6
P SCK004 Seckel Syndrome 57 2.698
7
P JBR020 Joubert Syndrome 1 72 2.650
8
CHR563 Chronic Eosinophilic Leukemia 48 2.650
9
ISL014 Isolated Growth Hormone Deficiency, Type Ia 55 1.936
10
c MCR250 Microcephaly 6, Primary, Autosomal Recessive 41 1.936
11
P PRV002 Periventricular Nodular Heterotopia 54 1.874
12
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 51 1.874
13
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 46 1.874
14
c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 44 1.874
15
MCR222 Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 43 1.874
16
PHY002 Physical Disorder 42 1.874
17
c SCK015 Seckel Syndrome 2 41 1.874
18
c MCR254 Microcephaly 4, Primary, Autosomal Recessive 41 1.874
19
c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41 1.874
20
c MCR269 Microcephaly 15, Primary, Autosomal Recessive 40 1.874
21
c MCR238 Microcephaly 7, Primary, Autosomal Recessive 40 1.874
22
c MCR249 Microcephaly 11, Primary, Autosomal Recessive 35 1.874
23
c MCR243 Microcephaly 8, Primary, Autosomal Recessive 35 1.874
24
IMM056 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 34 1.874
25
c CNG031 Congenital Nervous System Abnormality 27 1.874
26
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.167
27
c BRN108 Branchiootic Syndrome 1 61 0.106
28
P SNS001 Sensorineural Hearing Loss 61 0.106
29
P CTR002 Cataract 60 0.106
30
MCR013 Microphthalmia 60 0.106
31
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.106
32
CLB010 Coloboma of Macula 53 0.106
33
P CLB034 Coloboma, Ocular, Autosomal Dominant 49 0.106
34
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 46 0.106
35
P BRS047 Breast Cancer 96 0.075
36
P HLP001 Holoprosencephaly 68 0.075
37
P INF032 Infertility 57 0.075
38
FRY006 Fryns Microphthalmia Syndrome 54 0.075
39
LRN003 Learning Disability 49 0.075
40
CRP032 Corpus Callosum, Agenesis of 49 0.075
41
ATS010 Autosomal Recessive Disease 48 0.075
42
DWR001 Dwarfism 44 0.075
43
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 36 0.075
Content
Loading form....