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Symptoms:

    


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DiseasesRatingBibliogr.Expand
1Chromosome Aberrations100+ 
2Chromosome Disorders68+ 
3Chromosome Deletion67+ 
4Ring Chromosomes60+ 
5Chromosome Inversion41+ 
6Sex Chromosome Aberrations36+ 
7Translocation, Genetic27+ 
8Chromosome Breakage23+ 
9Abnormalities, Multiple21+ 
10Intellectual Disability20+ 
11Trisomy19+ 
12Aneuploidy16+ 
13Philadelphia Chromosome16+ 
14Chromosome Fragility15+ 
15Chromosome Duplication12+ 
16Syndrome11+ 
17Developmental Disabilities11+ 
18Uniparental Disomy10+ 
19Growth Disorders10+ 
20Sex Chromosome Disorders9+ 
21Monosomy9+ 
22Down Syndrome9+ 
23Turner Syndrome9+ 
24Psychomotor Disorders8+ 
25Prader-Willi Syndrome8+ 
26Nondisjunction, Genetic7+ 
27Polyploidy7+ 
28Leukemia, Myeloid7+ 
29Microcephaly7+ 
30Craniofacial Abnormalities6+ 
31Oligospermia6+ 
32Infertility, Male6+ 
33Sex Chromosome Disorders of Sex Development6+ 
34Isochromosomes6+ 
35Abortion, Habitual6+ 
36Leukemia, Myeloid, Acute6+ 
37XYY Karyotype6+ 
38Muscle Hypotonia5+ 
39Facies5+ 
40Leukemia, Myelogenous, Chronic, BCR-ABL Positive5+ 
41Chromosomal Instability5+ 
42Fetal Growth Retardation5+ 
43Klinefelter Syndrome5+ 
44Autistic Disorder4+ 
45Gonadal Dysgenesis4+ 
46Azoospermia4+ 
47Myelodysplastic Syndromes4+ 
48Abortion, Spontaneous4+ 
49DiGeorge Syndrome4+ 
50Leukemia, Lymphoid4+ 
51Genetic Predisposition to Disease4+ 
52Angelman Syndrome4+ 
53Congenital Abnormalities4+ 
54Heart Defects, Congenital4+ 
55Precursor Cell Lymphoblastic Leukemia-Lymphoma3+ 
56Leukemia3+ 
57Abnormal Karyotype3+ 
58Preleukemia3+ 
59Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative3+ 
60Disorders of Sex Development3+ 
61Cleft Palate3+ 
62Hypertelorism3+ 
63Tetrasomy3+ 
64Cri-du-Chat Syndrome3+ 
65Retinoblastoma3+ 
66Diseases in Twins3+ 
67Leukemia, Erythroblastic, Acute3+ 
68Coloboma3+ 
69Amenorrhea3+ 
70Blast Crisis3+ 
71Gonadal Dysgenesis, Mixed3+ 
72Leukemia, Myelomonocytic, Acute3+ 
73Eye Abnormalities3+ 
74Leukemia, Monocytic, Acute3+ 
75Hand Deformities, Congenital3+ 
76Language Development Disorders3+ 
77Beckwith-Wiedemann Syndrome3+ 
78Ataxia Telangiectasia3+ 
79Hypospadias2+ 
80Holoprosencephaly2+ 
81Learning Disorders2+ 
82Myeloproliferative Disorders2+ 
83Foot Deformities, Congenital2+ 
84Dwarfism2+ 
85Gonadal Dysgenesis, 46,XY2+ 
86Agenesis of Corpus Callosum2+ 
87Anemia, Refractory, with Excess of Blasts2+ 
88Fetal Diseases2+ 
89Micronuclei, Chromosome-Defective2+ 
90Speech Disorders2+ 
91Epilepsy2+ 
92Silver-Russell Syndrome2+ 
93Anus, Imperforate2+ 
94Pigmentation Disorders2+ 
95Primary Ovarian Insufficiency2+ 
96Burkitt Lymphoma2+ 
97Gonadal Dysgenesis, 46,XX2+ 
98Limb Deformities, Congenital2+ 
99Hypogonadism2+ 
100Failure to Thrive2+ 
101Micrognathism2+ 
102Cell Transformation, Neoplastic2+ 
103Cleft Lip2+ 
104Mental Retardation, X-Linked2+ 
105Gonadoblastoma2+ 
106Noonan Syndrome2+ 
107Microphthalmos2+ 
108Muscular Dystrophies2+ 
109Wilms Tumor2+ 
110Infertility2+ 
111Neoplasms, Adipose Tissue1+ 
112Clubfoot1+ 
113Fetal Death1+ 
114Dysgerminoma1+ 
115Immunologic Deficiency Syndromes1+ 
116Genetic Diseases, Inborn1+ 
117Body Dysmorphic Disorders1+ 
118Jacobsen Distal 11q Deletion Syndrome1+ 
119Seizures1+ 
120Leukemia, Myelomonocytic, Chronic1+ 
121Genetic Diseases, X-Linked1+ 
122Charcot-Marie-Tooth Disease1+ 
123Disease Progression1+ 
124Craniosynostoses1+ 
125Leukemia, Promyelocytic, Acute1+ 
126Syndactyly1+ 
127Kidney Neoplasms1+ 
128Primary Myelofibrosis1+ 
129Aniridia1+ 
130Obesity1+ 
131Hematologic Diseases1+ 
132Wolf-Hirschhorn Syndrome1+ 
133Craniofacial Dysostosis1+ 
134Blepharophimosis1+ 
135Polydactyly1+ 
136Fanconi Anemia1+ 
137Dandy-Walker Syndrome1+ 
138Anemia, Refractory1+ 
139Language Disorders1+ 
140Neuroblastoma1+ 
141Leukemia, Myeloid, Chronic-Phase1+ 
142Leukemia, B-Cell1+ 
143Acute Disease1+ 
144Eye Neoplasms1+ 
145Thrombocythemia, Essential1+ 
146Williams Syndrome1+ 
147Muscle Hypertonia1+ 
148Child Behavior Disorders1+ 
149Neoplasms, Experimental1+ 
150Neoplasms, Second Primary1+ 
151Rett Syndrome1+ 
152Cryptorchidism1+ 
153Leukemia, Lymphocytic, Chronic, B-Cell1+ 
154Thrombocytosis1+ 
155Motor Skills Disorders1+ 
156Dermatofibrosarcoma1+ 
157Skin Abnormalities1+ 
158Anemia, Sideroblastic1+ 
159Deafness1+ 
160Polycythemia Vera1+ 
161Nervous System Malformations1+ 
162Leukemia, Megakaryoblastic, Acute1+ 
163Child Development Disorders, Pervasive1+ 
164Ovotesticular Disorders of Sex Development1+ 
165Brain Neoplasms1+ 
166Thalassemia1+ 
167Maxillofacial Abnormalities1+ 
168Cell Transformation, Viral1+ 
169Lymphoma, Non-Hodgkin1+ 
170Neoplasms1+ 
171Leukemia, Neutrophilic, Chronic1+ 
172Eosinophilia1+ 
173Skin Neoplasms1+ 
174Epilepsy, Generalized1+ 
175Cerebellar Ataxia1+ 
176Acute Radiation Syndrome1+ 
177Ovarian Neoplasms1+ 
178Cataract1+ 
179Uterine Neoplasms1+ 
180Neoplasms, Multiple Primary1+ 
181Disease Models, Animal1+ 
182Pancytopenia1+ 
183Acrocallosal Syndrome1+ 
184Blepharoptosis1+ 
185Spasms, Infantile1+ 
186Tetralogy of Fallot1+ 
187Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1+ 
188Urogenital Abnormalities1+ 
189Birth Weight1+ 
190Osteochondrodysplasias1+ 
191Soft Tissue Neoplasms1+ 
192Olfaction Disorders1+ 
193Hematologic Neoplasms1+ 
194Gynecomastia1+ 
195Genetic Diseases, Y-Linked1+ 
196Recurrence1+ 
197Leukemia-Lymphoma, Adult T-Cell1+ 
198Hypopigmentation1+ 
199Lymphoma, B-Cell1+ 
200Neurofibromatosis 21+ 
201Abdominal Neoplasms1+ 
202Bone Diseases, Developmental1+ 
203Tooth Abnormalities1+ 
204Schizophrenia1+ 
205Ectromelia1+ 
206Lymphangioma, Cystic1+ 
207Hyperkinesis1+ 
208Mental Disorders1+ 
209Hyperpigmentation1+ 
210Anencephaly1+ 
211Bone Neoplasms1+ 
212Hearing Loss1+ 
213Carcinoma, Renal Cell1+ 
214Fibrosarcoma1+ 
215Lymphoma, Follicular1+ 
216Piebaldism1+ 

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