Diseases | Belgian Genetic Tests database

Statistics

Type	Total	Last update
Genetic tests	859	2024-02-16
Diseases	4232	2023-06-22
Analytes	6169	2023-12-20
Gene panels	380	2024-03-20

Name	Orphanumber	Description	XREF(s)
Autosomal dominant spastic paraplegia type 17	100998	A complex hereditary spastic paraplegia…	Orphanet, OMIM, ICD-10
Autosomal dominant spastic paraplegia type 19	100999	A pure form of hereditary spastic…	Orphanet, OMIM, MeSH, ICD-10
Dentatorubral pallidoluysian atrophy	101	A rare subtype of autosomal dominant…	Orphanet, OMIM, ICD-10
Autosomal dominant palmoplantar keratoderma and congenital alopecia	1010	A rare genetic skin disorder…	Orphanet, OMIM, ICD-10
Autosomal recessive spastic paraplegia type 20	101000	Autosomal recessive spastic paraplegia…	Orphanet, OMIM, ICD-10
Autosomal recessive spastic paraplegia type 21	101001	Autosomal recessive spastic paraplegia…	Orphanet, OMIM, ICD-10
Autosomal recessive spastic paraplegia type 23	101003	Autosomal recessive spastic paraplegia…	Orphanet, OMIM, ICD-10
Autosomal recessive spastic paraplegia type 24	101004	A very rare, pure form of spastic…	Orphanet, ICD-10, OMIM
Autosomal recessive spastic paraplegia type 25	101005	Autosomal recessive spastic paraplegia…	Orphanet, MeSH, ICD-10, OMIM
Autosomal recessive spastic paraplegia type 26	101006	Autosomal recessive spastic paraplegia…	Orphanet, ICD-10, MeSH, OMIM
Autosomal recessive spastic paraplegia type 27	101007	Autosomal recessive spastic paraplegia…	Orphanet, ICD-10, OMIM
Autosomal recessive spastic paraplegia type 28	101008	Autosomal recessive spastic paraplegia…	Orphanet, ICD-10, OMIM
Autosomal dominant spastic paraplegia type 29	101009	A complex form of hereditary spastic…	Orphanet, MeSH, ICD-10, OMIM
Autosomal spastic paraplegia type 30	101010	A rare, pure or complex form of…	Orphanet, ICD-10, OMIM
Autosomal dominant spastic paraplegia type 31	101011	A rare type of hereditary spastic…	Orphanet, ICD-10, OMIM
Romano-Ward syndrome	101016	A form of familial long QT syndrome (…	Orphanet, OMIM, OMIM, OMIM, MeSH, ICD-10, MedDRA, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Cleft hard palate	101023		Orphanet, ICD-10
Transaldolase deficiency	101028	Transaldolase deficiency is an inborn…	Orphanet, ICD-10, OMIM
Female restricted epilepsy with intellectual disability	101039	Female restricted epilepsy with…	Orphanet, ICD-10, OMIM
Familial hypofibrinogenemia	101041	Familial hypofibrinogenemia is a…	Orphanet, ICD-10, OMIM

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