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Diseases
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Name
Orphanumber
Description
XREF(s)
X-linked Charcot-Marie-Tooth disease type 1
101075
X-linked Charcot-Marie-Tooth disease…
Orphanet
,
OMIM
,
MeSH
,
ICD-10
X-linked cleft palate and ankyloglossia
324601
X-linked cleft palate and ankyloglossia…
Orphanet
,
OMIM
,
ICD-10
X-linked complicated corpus callosum dysgenesis
1497
A congenital, X-linked, clinical…
Orphanet
,
OMIM
,
ICD-10
X-linked complicated spastic paraplegia type 1
306617
A congenital, X-linked, clinical…
Orphanet
X-linked cone dysfunction syndrome with myopia
90001
X-linked cone dysfunction syndrome with…
Orphanet
,
ICD-10
,
OMIM
X-linked congenital generalized hypertrichosis
79495
X-linked congenital generalized…
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MeSH
,
ICD-10
,
OMIM
X-linked creatine transporter deficiency
52503
X-linked creatine transporter…
Orphanet
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ICD-10
,
OMIM
X-linked diffuse leiomyomatosis-Alport syndrome
1018
The association of X-linked Alport…
X-linked distal spinal muscular atrophy type 3
139557
X-linked distal spinal muscular atrophy…
Orphanet
,
OMIM
,
ICD-10
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
163966
X-linked dominant chondrodysplasia…
Orphanet
,
OMIM
,
ICD-10
X-linked dominant chondrodysplasia punctata
35173
A rare genodermatosis disease with…
Orphanet
,
ICD-10
,
OMIM
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
363727
X-linked dyserythropoietic anemia with…
Orphanet
,
OMIM
,
ICD-10
X-linked dystonia-parkinsonism
53351
X-linked dystonia-parkinsonism (XDP) is…
Orphanet
,
OMIM
,
ICD-10
X-linked Ehlers-Danlos syndrome
75497
A rare systemic disease characterized…
Orphanet
,
ICD-10
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OMIM
,
MeSH
X-linked Emery-Dreifuss muscular dystrophy
98863
Orphanet
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ICD-10
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OMIM
,
OMIM
X-linked epilepsy-learning disabilities-behavior disorders syndrome
85294
X-linked epilepsy-learning disabilities…
Orphanet
,
OMIM
,
ICD-10
X-linked erythropoietic protoporphyria
443197
A rare disorder of porphyrin and heme…
Orphanet
,
OMIM
,
ICD-10
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
500188
A rare syndromic genetic deafness…
Orphanet
,
OMIM
,
ICD-10
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
480880
A rare genetic multiple congenital…
Orphanet
,
OMIM
,
ICD-10
X-linked hereditary sensory and autonomic neuropathy with deafness
139583
A rare peripheral neuropathy…
Orphanet
,
OMIM
,
ICD-10
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