Search results for champ1

Showing 25 of 45 hits for champ1
# Family MCID Name MIFTS Score
1
NRD150 Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features 26 31.860
2
c ATS403 Autosomal Dominant Intellectual Disability 40 14 31.265
3
c ATS529 Autosomal Dominant Intellectual Developmental Disorder 40 22 9.840
4
c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 34 8.781
5
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 49 7.711
6
c RTS002 Ritscher-Schinzel Syndrome 2 35 7.711
7
c MCL071 Macular Dystrophy, Patterned, 2 31 7.711
8
P MSC022 Mosaic Variegated Aneuploidy Syndrome 52 7.711
9
c PRM031 Primary Autosomal Recessive Microcephaly 51 7.711
10
P PTT054 Patterned Macular Dystrophy 19 7.711
11
CHR490 Chromosome 10q23 Deletion Syndrome 24 7.711
12
c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 40 7.711
13
c INT547 Intellectual Developmental Disorder, Autosomal Dominant 35 37 7.711
14
c CNG031 Congenital Nervous System Abnormality 32 7.711
15
c INT551 Intellectual Developmental Disorder, Autosomal Dominant 43 32 7.711
16
ALT003 Alternating Exotropia 32 7.711
17
P MCR010 Microcephaly 59 2.044
18
HYP265 Hypotonia 46 2.044
19
c ATS007 Autism Spectrum Disorder 70 1.669
20
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 1.599
21
c FNC056 Fanconi Anemia, Complementation Group V 35 1.263
22
P SYN057 Syndromic Intellectual Disability 33 1.223
23
P ATS364 Autism 74 1.180
24
P ATT013 Attention Deficit-Hyperactivity Disorder 66 1.180
25
EPC005 Epicanthus 35 1.131
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