14q11.2 microdeletion syndrome
|
(Orphanet:261120)
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Adenylosuccinate lyase deficiency
|
(Orphanet:46)
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COCKAYNE SYNDROME, TYPE III
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(OMIM:216411)
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Cystic leukoencephalopathy without megalencephaly
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(Orphanet:85136)
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Glycogen storage disease due to acid maltase deficiency
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(Orphanet:365)
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Hyperornithinemia-hyperammonemia-homocitrullinuria
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(Orphanet:415)
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Mucopolysaccharidosis type 1
|
(Orphanet:579)
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Neurodegeneration with brain iron accumulation due to C19orf12 mutation
|
(Orphanet:289560)
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Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
|
(Orphanet:88618)
|
Xeroderma pigmentosum complementation group B
|
(Orphanet:276252)
|