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Diseases
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Name
Orphanumber
Description
XREF(s)
SERKAL syndrome
139466
SERKAL (SEx Reversion, Kidneys, Adrenal…
Orphanet
,
ICD-10
,
OMIM
Microphthalmia with brain and digit anomalies
139471
Microphthalmia with brain and digit…
Orphanet
,
ICD-10
,
OMIM
17q11.2 microduplication syndrome
139474
17q11.2 microduplication syndrome is…
Orphanet
,
ICD-10
,
OMIM
Autosomal recessive spastic paraplegia type 39
139480
A rare autosomal recessive complex…
Orphanet
,
ICD-10
,
OMIM
Autosomal recessive ataxia due to ubiquinone deficiency
139485
This syndrome is characterised by…
Orphanet
,
OMIM
,
ICD-10
,
OMIM
Hemochromatosis type 4
139491
Hemochromatosis type 4 (also called…
Orphanet
,
OMIM
,
MeSH
,
ICD-10
Hemochromatosis type 1 (NON RARE IN EUROPE)
139498
ORPHANET
NON RARE IN EUROPE: Hemochromatosis type 1
139498
Orphanet
Neuropathy with hearing impairment
139512
This syndrome is characterized by the…
Orphanet
,
ICD-10
Charcot-Marie-Tooth disease type 4J
139515
Charcot-Marie-Tooth disease type 4J is…
Orphanet
,
OMIM
,
ICD-10
Distal hereditary motor neuropathy type 2
139525
A rare autosomal dominant distal…
Orphanet
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ICD-10
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OMIM
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OMIM
,
OMIM
,
OMIM
Distal hereditary motor neuropathy type 5
139536
A rare autosomal dominant distal…
Orphanet
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ICD-10
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OMIM
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OMIM
,
OMIM
Distal hereditary motor neuropathy, Jerash type
139552
A rare, genetic, neuromuscular disease…
Orphanet
,
ICD-10
,
OMIM
X-linked distal spinal muscular atrophy type 3
139557
X-linked distal spinal muscular atrophy…
Orphanet
,
OMIM
,
ICD-10
Mutilating hereditary sensory neuropathy with spastic paraplegia
139578
A rare genetic neurological disorder…
Orphanet
,
OMIM
,
ICD-10
X-linked hereditary sensory and autonomic neuropathy with deafness
139583
A rare peripheral neuropathy…
Orphanet
,
OMIM
,
ICD-10
Distal hereditary motor neuropathy type 7
139589
A rare, slowly progressive genetic…
Orphanet
,
OMIM
,
OMIM
,
ICD-10
Abetalipoproteinemia
14
A severe, familial…
Orphanet
,
MeSH
,
OMIM
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ICD-10
,
OMIM
,
OMIM
Campomelic dysplasia
140
A rare skeletal dysplasia characterized…
Orphanet
,
MeSH
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ICD-10
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OMIM
,
OMIM
,
OMIM
CHAND syndrome
1401
A rare ectodermal dysplasia syndrome…
Orphanet
,
ICD-10
,
OMIM
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