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Symptoms:

    


DiseasesRatingBibliogr.Expand
1Sex Chromosome Aberrations100+ 
2Wiskott-Aldrich Syndrome96+ 
3Diseases in Twins60+ 
4Chromosome Aberrations27+ 
5Chromosome Deletion26+ 
6Turner Syndrome24+ 
7Ring Chromosomes23+ 
8Translocation, Genetic19+ 
9Chromosome Disorders17+ 
10Choroideremia17+ 
11Intellectual Disability16+ 
12Mental Retardation, X-Linked16+ 
13Fragile X Syndrome13+ 
14Chromosome Inversion13+ 
15Abnormalities, Multiple11+ 
16Genetic Diseases, X-Linked11+ 
17Muscular Dystrophies10+ 
18Sex Chromosome Disorders9+ 
19Amenorrhea9+ 
20Chromosome Breakage9+ 
21Mucopolysaccharidosis II8+ 
22Trisomy6+ 
23Dwarfism6+ 
24Autistic Disorder6+ 
25Syndrome6+ 
26Developmental Disabilities6+ 
27Genetic Predisposition to Disease6+ 
28Klinefelter Syndrome5+ 
29Growth Disorders5+ 
30Myotonia5+ 
31Hemophilia B5+ 
32Aneuploidy5+ 
33Rett Syndrome5+ 
34Chromosome Fragility4+ 
35Primary Ovarian Insufficiency4+ 
36Hemophilia A4+ 
37Gonadal Dysgenesis4+ 
38Oligospermia4+ 
39Disorders of Sex Development4+ 
40Nondisjunction, Genetic3+ 
41Myotonic Disorders3+ 
42Brugada Syndrome3+ 
43Chromosome Duplication3+ 
44Infertility, Male3+ 
45Philadelphia Chromosome3+ 
46Erythromelalgia3+ 
47Paralysis, Hyperkalemic Periodic3+ 
48Microcephaly3+ 
49Menopause, Premature3+ 
50Lesch-Nyhan Syndrome3+ 
51Psychomotor Disorders3+ 
52Down Syndrome3+ 
53Polyploidy3+ 
54Adenomatous Polyposis Coli2+ 
55Monosomy2+ 
56Uniparental Disomy2+ 
57Asymptomatic Infections2+ 
58Cell Transformation, Viral2+ 
59Gonadal Dysgenesis, 46,XX2+ 
60Focal Dermal Hypoplasia2+ 
61Granulomatous Disease, Chronic2+ 
62Muscle Hypotonia2+ 
63Incontinentia Pigmenti2+ 
64Sex Chromosome Disorders of Sex Development2+ 
65Pigmentation Disorders2+ 
66Albinism, Ocular2+ 
67Long QT Syndrome2+ 
68Prader-Willi Syndrome2+ 
69Schizophrenia2+ 
70Craniofacial Abnormalities2+ 
71Retinoblastoma2+ 
72Beckwith-Wiedemann Syndrome2+ 
73Isochromosomes2+ 
74Mineralocorticoid Excess Syndrome, Apparent2+ 
75Azoospermia1+ 
76Muscular Dystrophy, Duchenne1+ 
77Microphthalmos1+ 
78Facies1+ 
79Hypogonadism1+ 
80Rhabdoid Tumor1+ 
81Chondrodysplasia Punctata1+ 
82Fetal Growth Retardation1+ 
83Leukemia, Myeloid1+ 
84Tetrasomy1+ 
85Abortion, Spontaneous1+ 
86Preleukemia1+ 
87Thrombocytopenia1+ 
88Neurofibromatosis 21+ 
89Skin Abnormalities1+ 
90XYY Karyotype1+ 
91Factor X Deficiency1+ 
92Arrhythmias, Cardiac1+ 
93Leukemia, Myeloid, Acute1+ 
94Abortion, Habitual1+ 
95Fabry Disease1+ 
96Disease Progression1+ 
97Neurofibromatosis 11+ 
98Pelizaeus-Merzbacher Disease1+ 
99Ichthyosis1+ 
100Leukemia1+ 
101Multiple Endocrine Neoplasia Type 11+ 
102Ichthyosis, X-Linked1+ 
103Leukemia, Myelogenous, Chronic, BCR-ABL Positive1+ 
104Adenoma1+ 
105Cleft Palate1+ 
106Paralyses, Familial Periodic1+ 
10746, XX Testicular Disorders of Sex Development1+ 
108Chromosomal Instability1+ 
109Fetal Diseases1+ 
110Limb Deformities, Congenital1+ 
111Anemia, Sideroblastic1+ 
112Disease1+ 
113Agenesis of Corpus Callosum1+ 
114Myelodysplastic Syndromes1+ 
115Laryngomalacia1+ 
116DiGeorge Syndrome1+ 
117Leukemia, Lymphoid1+ 
118Parathyroid Neoplasms1+ 

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