22q11 Deletion Syndrome

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Symptoms:

More information

	Diseases	Rating	Bibliogr.
1	22q11 Deletion Syndrome	100	+ +
2	Chromosome Deletion	96	+ +
3	DiGeorge Syndrome	40	+ +
4	Syndrome	25	+ +
5	Abnormalities, Multiple	23	+ +
6	Developmental Disabilities	20	+ +
7	Intellectual Disability	20	+ +
8	Chromosome Disorders	20	+ +
9	Facies	16	+ +
10	Craniofacial Abnormalities	13	+ +
11	Muscle Hypotonia	12	+ +
12	Chromosome Aberrations	10	+ +
13	WAGR Syndrome	10	+ +
14	Psychomotor Disorders	9	+ +
15	Jacobsen Distal 11q Deletion Syndrome	8	+ +
16	Translocation, Genetic	8	+ +
17	Growth Disorders	8	+ +
18	Hypoparathyroidism	8	+ +
19	Language Development Disorders	8	+ +
20	Heart Defects, Congenital	7	+ +
21	Chromosome Breakage	7	+ +
22	Agenesis of Corpus Callosum	7	+ +
23	Autistic Disorder	6	+ +
24	Cri-du-Chat Syndrome	6	+ +
25	Velopharyngeal Insufficiency	6	+ +
26	Eye Abnormalities	6	+ +
27	Microcephaly	5	+ +
28	Cystinuria	5	+ +
29	Retinoblastoma	5	+ +
30	Failure to Thrive	5	+ +
31	Monosomy	5	+ +
32	Genetic Diseases, X-Linked	5	+ +
33	Prader-Willi Syndrome	5	+ +
34	IgA Deficiency	5	+ +
35	Nephrosis	4	+ +
36	Chromosome Inversion	4	+ +
37	Malformations of Cortical Development	4	+ +
38	Hypocalcemia	4	+ +
39	Cleft Palate	4	+ +
40	Genetic Predisposition to Disease	4	+ +
41	Q Fever	4	+ +
42	Exostoses, Multiple Hereditary	4	+ +
43	Genetic Diseases, Inborn	4	+ +
44	Congenital Abnormalities	4	+ +
45	Obesity	4	+ +
46	Craniosynostoses	4	+ +
47	Choroideremia	4	+ +
48	Craniofacial Dysostosis	4	+ +
49	Trisomy	4	+ +
50	Coloboma	3	+ +
51	Hearing Loss	3	+ +
52	Aphonia	3	+ +
53	Seizures	3	+ +
54	Tetralogy of Fallot	3	+ +
55	Fetal Growth Retardation	3	+ +
56	Hand Deformities, Congenital	3	+ +
57	Cognition Disorders	3	+ +
58	Limb Deformities, Congenital	3	+ +
59	Micrognathism	3	+ +
60	Dandy-Walker Syndrome	3	+ +
61	Polydactyly	2	+ +
62	Respiratory System Abnormalities	2	+ +
63	Kearns-Sayre Syndrome	2	+ +
64	Epilepsy	2	+ +
65	Retinal Neoplasms	2	+ +
66	Hearing Disorders	2	+ +
67	Diseases in Twins	2	+ +
68	Hearing Loss, Sensorineural	2	+ +
69	Psychotic Disorders	2	+ +
70	Deafness	2	+ +
71	Synovitis	2	+ +
72	Fetal Diseases	2	+ +
73	Chromosome Duplication	2	+ +
74	Dystonia	2	+ +
75	alpha-Thalassemia	2	+ +
76	Angelman Syndrome	2	+ +
77	Dysgammaglobulinemia	2	+ +
78	Arthritis, Juvenile	2	+ +
79	Schizophrenia	2	+ +
80	Muscular Dystrophies	1	+ +
81	Ring Chromosomes	1	+ +
82	Sex Chromosome Aberrations	1	+ +
83	Thalassemia	1	+ +
84	Williams Syndrome	1	+ +
85	Muscular Dystrophy, Duchenne	1	+ +
86	Abnormal Karyotype	1	+ +
87	Learning Disorders	1	+ +
88	Chromosome Fragility	1	+ +
89	Blepharophimosis	1	+ +
90	Aniridia	1	+ +
91	Mitochondrial Myopathies	1	+ +
92	Mitochondrial Diseases	1	+ +
93	Holoprosencephaly	1	+ +
94	Speech Disorders	1	+ +
95	Hypertelorism	1	+ +
96	beta-Thalassemia	1	+ +
97	Ichthyosis, X-Linked	1	+ +
98	Wolf-Hirschhorn Syndrome	1	+ +
99	Child Development Disorders, Pervasive	1	+ +
100	Mental Retardation, X-Linked	1	+ +
101	Fragile X Syndrome	1	+ +
102	Muscular Atrophy, Spinal	1	+ +
103	Rett Syndrome	1	+ +
104	Aneuploidy	1	+ +
105	Myelodysplastic Syndromes	1	+ +
106	Kallmann Syndrome	1	+ +
107	Oligospermia	1	+ +
108	Muscular Dystrophy, Facioscapulohumeral	1	+ +
109	Dwarfism	1	+ +
110	Foot Deformities, Congenital	1	+ +
111	Microphthalmos	1	+ +
112	Leukemia, Myeloid, Acute	1	+ +
113	Langer-Giedion Syndrome	1	+ +
114	Language Disorders	1	+ +
115	Albinism, Ocular	1	+ +
116	Upper Extremity Deformities, Congenital	1	+ +

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