Search results for cafe-au-lait spots

95 hits were found for cafe-au-lait spots

# Family MCID Name MIFTS Score
1
WTS001 Watson Syndrome 25 27.810
2
CFL005 Cafe-Au-Lait Spots, Multiple 20 26.011
3
ATS270 Autosomal Dominant Café Au Lait Spots 28 20.232
4
LGS001 Legius Syndrome 52 16.577
5
GST056 Gastrocutaneous Syndrome 17 16.396
6
FBR026 Fibromatosis Multiple Non Ossifying 10 11.264
7
P NRF023 Neurofibromatosis, Type Ii 69 0.842
8
MCC012 Mccune-Albright Syndrome 65 0.596
9
c NRF024 Neurofibromatosis, Type I 63 0.557
10
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.513
11
MSM014 Mismatch Repair Cancer Syndrome 63 0.501
12
c TBR025 Tuberous Sclerosis 1 63 0.453
13
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50 0.453
14
NRF008 Neurofibromatosis-Noonan Syndrome 47 0.453
15
P ATX030 Ataxia-Telangiectasia 80 0.450
16
P FNC027 Fanconi Anemia, Complementation Group a 78 0.450
17
P SLV001 Silver-Russell Syndrome 57 0.450
18
JHN004 Johnson Neuroectodermal Syndrome 30 0.450
19
c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24 0.450
20
HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 25 0.444
21
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47 0.390
22
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36 0.390
23
NRF016 Neurofibromatosis, Familial Spinal 33 0.387
24
CTS011 Cutis Marmorata Telangiectatica Congenita 36 0.333
25
P NJM001 Nijmegen Breakage Syndrome 69 0.327
26
INS024 Insulin-Like Growth Factor I 83 0.325
27
c LPR012 Leopard Syndrome 1 33 0.325
28
P PHC003 Pheochromocytoma 72 0.322
29
P PRT008 Proteus Syndrome 67 0.322
30
P CRD224 Cardiofaciocutaneous Syndrome 1 65 0.322
31
c MLT160 Multiple Endocrine Neoplasia, Type Iia 65 0.322
32
P FNC043 Fanconi Anemia, Complementation Group E 52 0.322
33
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 45 0.322
34
c FNC046 Fanconi Anemia, Complementation Group P 25 0.322
35
PNH003 Pinheiro Freire-Maia Miranda Syndrome 18 0.322
36
P CWD001 Cowden Disease 67 0.318
37
c TBR026 Tuberous Sclerosis 2 65 0.318
38
BLM001 Bloom Syndrome 62 0.318
39
P KBK002 Kabuki Syndrome 1 62 0.318
40
c FNC042 Fanconi Anemia, Complementation Group D2 56 0.318
41
RBR001 Roberts Syndrome 55 0.318
42
MBS002 Moebius Syndrome 53 0.318
43
c CNT075 Central Precocious Puberty 52 0.318
44
c WRD033 Waardenburg Syndrome, Type 2e 52 0.318
45
EPD001 Epidermodysplasia Verruciformis 52 0.318
46
c RNG023 Ring Chromosome 7 50 0.318
47
c RBN021 Rubinstein-Taybi Syndrome 1 50 0.318
48
c JVN003 Juvenile Xanthogranuloma 48 0.318
49
JHN001 Johanson-Blizzard Syndrome 48 0.318
50
P MSC022 Mosaic Variegated Aneuploidy Syndrome 47 0.318
51
SCH016 Schimke Immunoosseous Dysplasia 47 0.318
52
P FNC044 Fanconi Anemia, Complementation Group C 45 0.318
53
P DYS023 Dyschromatosis Universalis Hereditaria 42 0.318
54
c RNG008 Ring Chromosome 13 37 0.318
55
FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 30 0.318
56
SMT020 Smith-Kingsmore Syndrome 29 0.318
57
c FNC024 Fanconi Anemia, Complementation Group D1 28 0.318
58
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 28 0.318
59
FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 27 0.318
60
NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 25 0.318
61
c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 24 0.318
62
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 24 0.318
63
c SCK015 Seckel Syndrome 2 24 0.318
64
OHD003 Ohdo Syndrome, X-Linked 23 0.318
65
c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 21 0.318
66
PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 20 0.318
67
c LPR007 Leopard Syndrome 3 20 0.318
68
NRF025 Neurofibromatosis, Type Iii, Mixed Central and Peripheral 17 0.318
69
RSS027 Russell-Silver Syndrome, X-Linked 17 0.318
70
DST061 Distal Xq28 Microduplication Syndrome 17 0.318
71
HLL006 Halal Setton Wang Syndrome 16 0.318
72
HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 13 0.318
73
c MLT156 Multiple Endocrine Neoplasia, Type I 70 0.314
74
c DWL002 Dowling-Degos Disease 1 50 0.233
75
ALP097 Alopecia Universalis Congenita 40 0.233
76
FBR009 Fibrous Dysplasia 49 0.230
77
c RNG010 Ring Chromosome 15 28 0.230
78
CNT061 Conotruncal Heart Malformations 70 0.225
79
P CRN038 Carney Complex Variant 59 0.225
80
P MCR010 Microcephaly 57 0.225
81
ALB001 Albright's Hereditary Osteodystrophy 55 0.225
82
CTN014 Cutaneous Mastocytosis 50 0.225
83
P PLN008 Peeling Skin Syndrome 37 0.225
84
c FNC028 Fanconi Anemia, Complementation Group L 32 0.225
85
7Q1002 7q11.23 Duplication Syndrome 31 0.225
86
WTT002 Witteveen-Kolk Syndrome 29 0.225
87
FNC030 Fanconi Anemia, Complementation Group G 29 0.225
88
c RNG007 Ring Chromosome 12 27 0.225
89
c FNC023 Fanconi Anemia, Complementation Group N 27 0.225
90
c NNN013 Noonan Syndrome 6 26 0.225
91
WLL012 Williams-Beuren Region Duplication Syndrome 26 0.225
92
c FNC029 Fanconi Anemia, Complementation Group I 25 0.225
93
c FNC025 Fanconi Anemia, Complementation Group J 21 0.225
94
c ADM009 Adams-Oliver Syndrome 4 21 0.225
95
c LPR011 Leopard Syndrome 2 18 0.225
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