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Orphanumber
Description
XREF(s)
X-linked sideroblastic anemia and spinocerebellar ataxia
2802
A rare syndromic, inherited form of…
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,
OMIM
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ICD-10
X-linked spastic paraplegia type 34
171607
X-linked spastic paraplegia type 34 is…
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OMIM
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ICD-10
X-linked spastic paraplegia type 16
100997
A complex, hereditary, spastic…
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MeSH
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ICD-10
X-linked spasticity-intellectual disability-epilepsy syndrome
3175
A rare ARX-related epileptic…
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OMIM
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ICD-10
X-linked spondyloepimetaphyseal dysplasia
93349
A rare, genetic primary bone dysplasia…
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OMIM
X-linked thrombocytopenia with normal platelets
852
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OMIM
Xq21 microdeletion syndrome
1435
An X-linked retinal dystrophy…
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OMIM
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ICD-10
Xq25 microduplication syndrome
521258
A rare, X-linked, multiple congenital…
Orphanet
Xq27.3q28 duplication syndrome
261483
Xq27.3q28 duplication syndrome is a…
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ICD-10
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OMIM
XYLT1-CDG
370930
XYLT1-CDG is a rare congenital disorder…
Orphanet
Young adult-onset distal hereditary motor neuropathy
314485
Young adult-onset distal hereditary…
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OMIM
Young-onset Parkinson disease
2828
A rare, genetic, parkinsonian disorder…
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Yunis-Varon syndrome
3472
A rare, genetic, multiple congenital…
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MeSH
Zebra body myopathy
97240
Zebra body myopathy is a benign…
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ICD-10
Zellweger syndrome
912
A rare peroxisome biogenesis disorder (…
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Zimmermann-Laband syndrome
3473
A rare genetic multiple congenital…
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OMIM
Zygodactyly type 3
295191
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