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Symptoms:

    


DiseasesRatingBibliogr.Expand
1Genetic Diseases, Inborn100+ 
2Genetic Diseases, X-Linked93+ 
3Genetic Diseases, Y-Linked41+ 
4Cystic Fibrosis21+ 
5Abnormalities, Radiation-Induced17+ 
6Ichthyosis, X-Linked14+ 
7Mental Retardation, X-Linked13+ 
8Werner Syndrome12+ 
9Syndrome12+ 
10Genetic Predisposition to Disease10+ 
11Intellectual Disability10+ 
12Hemochromatosis8+ 
13Neurofibromatosis 17+ 
14Agammaglobulinemia7+ 
15Abnormalities, Multiple6+ 
16X-Linked Combined Immunodeficiency Diseases6+ 
17Adrenoleukodystrophy5+ 
18Granulomatous Disease, Chronic4+ 
19Sex Chromosome Aberrations4+ 
20Chondrodysplasia Punctata3+ 
21Retinoschisis3+ 
22Myopathies, Structural, Congenital2+ 
23Albinism, Ocular2+ 
24Muscular Atrophy, Spinal2+ 
25Ichthyosis2+ 
26Kallmann Syndrome2+ 
27Muscular Dystrophy, Emery-Dreifuss2+ 
28Ectodermal Dysplasia 1, Anhidrotic2+ 
29Hypophosphatemia, Familial2+ 
30Fabry Disease2+ 
31Severe Combined Immunodeficiency1+ 
32Incontinentia Pigmenti1+ 
33Rett Syndrome1+ 
34Charcot-Marie-Tooth Disease1+ 
35Lymphoproliferative Disorders1+ 
36Hypogonadism1+ 
37Ectodermal Dysplasia1+ 
38Hyper-IgM Immunodeficiency Syndrome, Type 11+ 
39Immunologic Deficiency Syndromes1+ 
40Retinitis Pigmentosa1+ 
41Oculocerebrorenal Syndrome1+ 
42Familial Hypophosphatemic Rickets1+ 
43Anemia, Sideroblastic1+ 
44Muscle Hypotonia1+ 
45Deafness1+ 
46Muscular Dystrophies1+ 
47Nephritis, Hereditary1+ 
48Hypergammaglobulinemia1+ 
49Hypospadias1+ 
50Diffuse Cerebral Sclerosis of Schilder1+ 
51Mucopolysaccharidosis II1+ 
52Microphthalmos1+ 
53Adrenal Insufficiency1+ 
54Hypohidrosis1+ 
55Coffin-Lowry Syndrome1+ 
56Hypertelorism1+ 
57Microcephaly1+ 
58Focal Dermal Hypoplasia1+ 
59Hydrocephalus1+ 
60Nystagmus, Congenital1+ 
61Agenesis of Corpus Callosum1+ 
62Muscular Dystrophy, Duchenne1+ 
63Photophobia1+ 
64Facies1+ 
65Growth Disorders1+ 
66Muscular Diseases1+ 
67Infectious Mononucleosis1+ 
68Choroideremia1+ 
69Glycogen Storage Disease Type IIb1+ 
70Ornithine Carbamoyltransferase Deficiency Disease1+ 
71Tooth Abnormalities1+ 
72Lesch-Nyhan Syndrome1+ 

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