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Symptoms:

    


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DiseasesRatingBibliogr.Expand
1Chromosome Aberrations100+ 
2Sex Chromosome Aberrations96+ 
3Chromosome Deletion72+ 
4Ring Chromosomes67+ 
5Chromosome Disorders66+ 
6Chromosome Inversion47+ 
7Turner Syndrome40+ 
8Translocation, Genetic35+ 
9Intellectual Disability33+ 
10Chromosome Breakage28+ 
11Sex Chromosome Disorders27+ 
12Abnormalities, Multiple27+ 
13Trisomy21+ 
14Aneuploidy20+ 
15Chromosome Fragility19+ 
16Gonadal Dysgenesis17+ 
17Fragile X Syndrome16+ 
18Syndrome16+ 
19Amenorrhea16+ 
20Klinefelter Syndrome16+ 
21Growth Disorders16+ 
22Mental Retardation, X-Linked15+ 
23Nondisjunction, Genetic15+ 
24Developmental Disabilities15+ 
25Chromosome Duplication14+ 
26Philadelphia Chromosome14+ 
27Genetic Diseases, X-Linked12+ 
28Psychomotor Disorders12+ 
29Primary Ovarian Insufficiency12+ 
30Polyploidy12+ 
31Uniparental Disomy11+ 
32Monosomy11+ 
33Choroideremia11+ 
34Gonadal Dysgenesis, 46,XX11+ 
35Muscular Dystrophies11+ 
36Muscle Hypotonia10+ 
37Disorders of Sex Development10+ 
38Sex Chromosome Disorders of Sex Development10+ 
39Mucopolysaccharidosis II9+ 
40Prader-Willi Syndrome9+ 
41Craniofacial Abnormalities9+ 
42Isochromosomes9+ 
43Oligospermia8+ 
44Diseases in Twins8+ 
45Infertility, Male8+ 
46Microcephaly8+ 
47Autistic Disorder8+ 
48Down Syndrome8+ 
49Azoospermia7+ 
50Facies7+ 
51Microphthalmos7+ 
52Hypogonadism6+ 
53Dwarfism6+ 
54Rett Syndrome6+ 
55Chondrodysplasia Punctata6+ 
56Fetal Growth Retardation6+ 
57Leukemia, Myeloid6+ 
58Genetic Predisposition to Disease6+ 
59Tetrasomy6+ 
60Abortion, Spontaneous6+ 
61Preleukemia6+ 
62Menopause, Premature6+ 
63Wiskott-Aldrich Syndrome5+ 
64Skin Abnormalities5+ 
65XYY Karyotype5+ 
66Leukemia, Myeloid, Acute5+ 
67Abortion, Habitual5+ 
68Pelizaeus-Merzbacher Disease5+ 
69Ichthyosis5+ 
70Leukemia5+ 
71Leukemia, Myelogenous, Chronic, BCR-ABL Positive4+ 
72Ichthyosis, X-Linked4+ 
73Pigmentation Disorders4+ 
74Cleft Palate4+ 
75Lesch-Nyhan Syndrome4+ 
76Beckwith-Wiedemann Syndrome4+ 
7746, XX Testicular Disorders of Sex Development4+ 
78Chromosomal Instability4+ 
79Fetal Diseases4+ 
80Limb Deformities, Congenital4+ 
81Anemia, Sideroblastic4+ 
82Disease4+ 
83Myelodysplastic Syndromes4+ 
84Agenesis of Corpus Callosum4+ 
85Laryngomalacia4+ 
86Granulomatous Disease, Chronic4+ 
87DiGeorge Syndrome4+ 
88Hemophilia A4+ 
89Leukemia, Lymphoid4+ 
90Hemophilia B3+ 
91Congenital Abnormalities3+ 
92Focal Dermal Hypoplasia3+ 
93Angelman Syndrome3+ 
94Noonan Syndrome3+ 
95Heart Defects, Congenital3+ 
96Precursor Cell Lymphoblastic Leukemia-Lymphoma3+ 
97Abnormal Karyotype3+ 
98Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative3+ 
99Gonadal Dysgenesis, Mixed3+ 
100Hypertelorism3+ 
101Incontinentia Pigmenti3+ 
102Adrenal Insufficiency3+ 
103Cri-du-Chat Syndrome3+ 
104Kallmann Syndrome3+ 
105Retinoblastoma3+ 
106Menkes Kinky Hair Syndrome3+ 
107Leukemia, Erythroblastic, Acute3+ 
108Coloboma2+ 
109Blast Crisis2+ 
110Eye Abnormalities2+ 
111Leukemia, Myelomonocytic, Acute2+ 
112Seizures2+ 
113Osteochondrodysplasias2+ 
114Leukemia, Monocytic, Acute2+ 
115Gynecomastia2+ 
116Agammaglobulinemia2+ 
117Nephritis, Hereditary2+ 
118Factor X Deficiency2+ 
119Hand Deformities, Congenital2+ 
120Language Development Disorders2+ 
121Hypospadias2+ 
122Primary Myelofibrosis2+ 
123Ataxia Telangiectasia2+ 
124Tooth Abnormalities2+ 
125Learning Disorders2+ 
126Holoprosencephaly2+ 
127Myeloproliferative Disorders2+ 
128Foot Deformities, Congenital2+ 
129Gonadal Dysgenesis, 46,XY2+ 
130Mucopolysaccharidosis I2+ 
131Mental Disorders2+ 
132Diffuse Cerebral Sclerosis of Schilder2+ 
133Anemia, Refractory, with Excess of Blasts2+ 
134Androgen-Insensitivity Syndrome2+ 
135Micronuclei, Chromosome-Defective2+ 
136Ectodermal Dysplasia2+ 
137Speech Disorders2+ 
138Epilepsy2+ 
139Pyruvate Dehydrogenase Complex Deficiency Disease2+ 
140Ornithine Carbamoyltransferase Deficiency Disease2+ 
141Silver-Russell Syndrome2+ 
142Anus, Imperforate2+ 
143Burkitt Lymphoma2+ 
144Cell Transformation, Neoplastic2+ 
145Gonadoblastoma2+ 
146Micrognathism1+ 
147Failure to Thrive1+ 
148Cleft Lip1+ 
149Wilms Tumor1+ 
150Infertility1+ 
151Dysgerminoma1+ 
152Fetal Death1+ 
153Neoplasms, Adipose Tissue1+ 
154Clubfoot1+ 
155Immunologic Deficiency Syndromes1+ 
156Genetic Diseases, Inborn1+ 
157Leukemia, Myelomonocytic, Chronic1+ 
158Body Dysmorphic Disorders1+ 
159Charcot-Marie-Tooth Disease1+ 
160Jacobsen Distal 11q Deletion Syndrome1+ 
161Disease Progression1+ 
162Kidney Neoplasms1+ 
163Syndactyly1+ 
164Leukemia, Promyelocytic, Acute1+ 
165Craniosynostoses1+ 
166Obesity1+ 
167Hematologic Diseases1+ 
168Aniridia1+ 
169Wolf-Hirschhorn Syndrome1+ 
170Craniofacial Dysostosis1+ 
171Blepharophimosis1+ 
172Polydactyly1+ 
173Fanconi Anemia1+ 
174Dandy-Walker Syndrome1+ 
175Acute Disease1+ 
176Language Disorders1+ 
177Neuroblastoma1+ 
178Anemia, Refractory1+ 
179Leukemia, B-Cell1+ 
180Leukemia, Myeloid, Chronic-Phase1+ 
181Thrombocythemia, Essential1+ 
182Eye Neoplasms1+ 
183Thrombocytosis1+ 
184Williams Syndrome1+ 
185Child Behavior Disorders1+ 
186Muscle Hypertonia1+ 
187Cryptorchidism1+ 
188Neoplasms, Second Primary1+ 
189Neoplasms, Experimental1+ 
190Leukemia, Lymphocytic, Chronic, B-Cell1+ 
191Motor Skills Disorders1+ 
192Dermatofibrosarcoma1+ 
193Polycythemia Vera1+ 
194Deafness1+ 
195Nervous System Malformations1+ 
196Ovotesticular Disorders of Sex Development1+ 
197Brain Neoplasms1+ 
198Child Development Disorders, Pervasive1+ 
199Leukemia, Megakaryoblastic, Acute1+ 
200Thalassemia1+ 
201Skin Neoplasms1+ 
202Cell Transformation, Viral1+ 
203Ovarian Neoplasms1+ 
204Maxillofacial Abnormalities1+ 
205Lymphoma, Non-Hodgkin1+ 
206Leukemia, Neutrophilic, Chronic1+ 
207Neoplasms1+ 
208Eosinophilia1+ 
209Disease Models, Animal1+ 
210Neoplasms, Multiple Primary1+ 
211Epilepsy, Generalized1+ 
212Uterine Neoplasms1+ 
213Cerebellar Ataxia1+ 
214Pancytopenia1+ 
215Cataract1+ 
216Acute Radiation Syndrome1+ 
217Genetic Diseases, Y-Linked1+ 
218Soft Tissue Neoplasms1+ 
219Spasms, Infantile1+ 
220Acrocallosal Syndrome1+ 
221Blepharoptosis1+ 
222Recurrence1+ 
223Tetralogy of Fallot1+ 
224Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1+ 
225Olfaction Disorders1+ 
226Birth Weight1+ 
227Hematologic Neoplasms1+ 
228Urogenital Abnormalities1+ 

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