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Symptoms:

    


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DiseasesRatingBibliogr.Expand
1Sex Chromosome Aberrations100+ 
2Chromosome Aberrations83+ 
3Chromosome Deletion63+ 
4Chromosome Disorders52+ 
5Ring Chromosomes47+ 
6Oligospermia46+ 
7Turner Syndrome38+ 
8Chromosome Inversion35+ 
9Sex Chromosome Disorders of Sex Development33+ 
10Azoospermia31+ 
11Gonadal Dysgenesis, 46,XY28+ 
12Translocation, Genetic28+ 
13Gonadal Dysgenesis, Mixed26+ 
14Infertility, Male26+ 
15XYY Karyotype26+ 
16Sex Chromosome Disorders25+ 
17Gonadoblastoma25+ 
18Gonadal Dysgenesis24+ 
19Disorders of Sex Development22+ 
20Chromosome Breakage21+ 
21Aneuploidy20+ 
22Dysgerminoma17+ 
23Abnormalities, Multiple17+ 
24Intellectual Disability16+ 
25Trisomy16+ 
26Genetic Diseases, Y-Linked12+ 
27Hypospadias11+ 
28Growth Disorders11+ 
29Philadelphia Chromosome10+ 
30Chromosome Duplication10+ 
31Polyploidy10+ 
32Syndrome10+ 
33Developmental Disabilities10+ 
34Chromosome Fragility10+ 
35Klinefelter Syndrome10+ 
36Gonadal Dysgenesis, 46,XX10+ 
37Urogenital Neoplasms9+ 
38Isochromosomes9+ 
39Ovotesticular Disorders of Sex Development9+ 
40Abnormal Karyotype9+ 
41Noonan Syndrome8+ 
42Amenorrhea8+ 
43Chromosomal Instability8+ 
44Leukemia, Myeloid8+ 
45Monosomy8+ 
46Hypogonadism7+ 
47Leukemia, Myeloid, Acute7+ 
48Uniparental Disomy7+ 
49Ovarian Neoplasms6+ 
50Cryptorchidism6+ 
51Down Syndrome6+ 
52Psychomotor Disorders5+ 
53Prader-Willi Syndrome5+ 
54Cell Transformation, Viral5+ 
55Language Development Disorders5+ 
56Nondisjunction, Genetic5+ 
57Genetic Predisposition to Disease5+ 
58Gynecomastia4+ 
59Dwarfism4+ 
60Microcephaly4+ 
61Craniofacial Abnormalities4+ 
6246, XX Testicular Disorders of Sex Development4+ 
63Abortion, Habitual4+ 
64Muscle Hypotonia3+ 
65Facies3+ 
66Leukemia, Myelogenous, Chronic, BCR-ABL Positive3+ 
67Virilism3+ 
68Fetal Growth Retardation3+ 
69Autistic Disorder3+ 
70Abortion, Spontaneous3+ 
71Myelodysplastic Syndromes3+ 
72DiGeorge Syndrome3+ 
73Leukemia, Lymphoid2+ 
74Congenital Abnormalities2+ 
75Angelman Syndrome2+ 
76Heart Defects, Congenital2+ 
77Precursor Cell Lymphoblastic Leukemia-Lymphoma2+ 
78Leukemia2+ 
79Preleukemia2+ 
80Cleft Palate2+ 
81Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative2+ 
82Hypertelorism2+ 
83Tetrasomy2+ 
84Cri-du-Chat Syndrome2+ 
85Diseases in Twins2+ 
86Retinoblastoma2+ 
87Leukemia, Erythroblastic, Acute2+ 
88Coloboma2+ 
89Blast Crisis2+ 
90Leukemia, Myelomonocytic, Acute2+ 
91Eye Abnormalities2+ 
92Leukemia, Monocytic, Acute2+ 
93Hand Deformities, Congenital2+ 
94Beckwith-Wiedemann Syndrome2+ 
95Ataxia Telangiectasia2+ 
96Holoprosencephaly1+ 
97Learning Disorders1+ 
98Myeloproliferative Disorders1+ 
99Foot Deformities, Congenital1+ 
100Anemia, Refractory, with Excess of Blasts1+ 
101Fetal Diseases1+ 
102Agenesis of Corpus Callosum1+ 
103Micronuclei, Chromosome-Defective1+ 
104Speech Disorders1+ 
105Epilepsy1+ 
106Anus, Imperforate1+ 
107Primary Ovarian Insufficiency1+ 
108Silver-Russell Syndrome1+ 
109Mental Retardation, X-Linked1+ 
110Limb Deformities, Congenital1+ 
111Pigmentation Disorders1+ 
112Burkitt Lymphoma1+ 
113Infertility1+ 
114Microphthalmos1+ 
115Cell Transformation, Neoplastic1+ 
116Failure to Thrive1+ 
117Micrognathism1+ 
118Cleft Lip1+ 
119Muscular Dystrophies1+ 
120Wilms Tumor1+ 
121Fetal Death1+ 
122Genetic Diseases, Inborn1+ 
123Neoplasms, Adipose Tissue1+ 
124Clubfoot1+ 
125Immunologic Deficiency Syndromes1+ 
126Disease Progression1+ 
127Body Dysmorphic Disorders1+ 
128Jacobsen Distal 11q Deletion Syndrome1+ 
129Seizures1+ 
130Leukemia, Myelomonocytic, Chronic1+ 
131Genetic Diseases, X-Linked1+ 
132Kidney Neoplasms1+ 
133Charcot-Marie-Tooth Disease1+ 
134Craniosynostoses1+ 
135Leukemia, Promyelocytic, Acute1+ 
136Syndactyly1+ 
137Primary Myelofibrosis1+ 
138Aniridia1+ 
139Obesity1+ 
140Hematologic Diseases1+ 
141Wolf-Hirschhorn Syndrome1+ 
142Craniofacial Dysostosis1+ 
143Blepharophimosis1+ 
144Acute Disease1+ 
145Polydactyly1+ 
146Fanconi Anemia1+ 
147Dandy-Walker Syndrome1+ 
148Anemia, Refractory1+ 
149Language Disorders1+ 
150Neuroblastoma1+ 
151Leukemia, Myeloid, Chronic-Phase1+ 
152Leukemia, B-Cell1+ 
153Eye Neoplasms1+ 
154Skin Abnormalities1+ 
155Rett Syndrome1+ 
156Thrombocythemia, Essential1+ 
157Williams Syndrome1+ 
158Anemia, Sideroblastic1+ 
159Leukemia, Lymphocytic, Chronic, B-Cell1+ 
160Muscle Hypertonia1+ 

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