haploinsufficiency

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Symptoms:

	Diseases	Rating	Bibliogr.
1	Chromosome Deletion	100	+ +
2	Facies	64	+ +
3	Intellectual Disability	57	+ +
4	Developmental Disabilities	50	+ +
5	Abnormalities, Multiple	48	+ +
6	CHARGE Syndrome	44	+ +
7	Hyperventilation	38	+ +
8	Language Development Disorders	38	+ +
9	Syndrome	37	+ +
10	Cerebral Small Vessel Diseases	36	+ +
11	Growth Disorders	33	+ +
12	Musculoskeletal Abnormalities	33	+ +
13	Aniridia	30	+ +
14	Agenesis of Corpus Callosum	29	+ +
15	Sotos Syndrome	29	+ +
16	Chromosome Breakage	29	+ +
17	Feeding and Eating Disorders of Childhood	28	+ +
18	Craniofacial Abnormalities	28	+ +
19	Williams Syndrome	27	+ +
20	Nephrosis	25	+ +
21	DiGeorge Syndrome	23	+ +
22	Muscle Hypotonia	22	+ +
23	Microcephaly	21	+ +
24	WAGR Syndrome	20	+ +
25	Autistic Disorder	20	+ +
26	Chromosomal Instability	20	+ +
27	Translocation, Genetic	20	+ +
28	Osteochondrodysplasias	20	+ +
29	Holoprosencephaly	20	+ +
30	Hypoparathyroidism	17	+ +
31	Foot Deformities, Congenital	17	+ +
32	Chromosome Disorders	17	+ +
33	Dwarfism	16	+ +
34	Genetic Predisposition to Disease	16	+ +
35	Heart Defects, Congenital	16	+ +
36	Cleft Palate	15	+ +
37	Speech Disorders	14	+ +
38	Hand Deformities, Congenital	14	+ +
39	Ring Chromosomes	12	+ +
40	Hearing Loss, Sensorineural	11	+ +
41	Chromosome Aberrations	11	+ +
42	Seizures	10	+ +
43	Epilepsy	10	+ +

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