| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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non-syndromic X-linked intellectual disability 23
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X-linked mental retardation 23; MRX23
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A non-syndromic X-linked intellectual disability c.. [+]A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24.
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non-syndromic X-linked intellectual disability 63
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X-linked mental retardation 68; X-linked mental re..
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X-linked mental retardation 68; X-linked mental retardation 63; ACSL4-related intellectual disability; MRX68; MRX63
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A non-syndromic X-linked intellectual disability c.. [+]A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23.
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non-syndromic X-linked intellectual disability 30
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X-linked mental retardation 47; X-linked mental re..
[+]
X-linked mental retardation 47; X-linked mental retardation 30/47; X-linked mental retardation 30; MRX30; MRX47
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A non-syndromic X-linked intellectual disability c.. [+]A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.
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non-syndromic X-linked intellectual disability 88
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X-linked mental retardation 88; MRX88
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A non-syndromic X-linked intellectual disability c.. [+]A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24.
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non-syndromic X-linked intellectual disability 107
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X-linked mental retardation 107; MRX107
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A non-syndromic X-linked intellectual disability c.. [+]A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24.
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non-syndromic X-linked intellectual disability 41
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X-linked mental retardation 48; X-linked mental re..
[+]
X-linked mental retardation 48; X-linked mental retardation 41; MRX41; MRX48
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A non-syndromic X-linked intellectual disability c.. [+]A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28.
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non-syndromic X-linked intellectual disability 72
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X-linked mental retardation 72; MRX72
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A non-syndromic X-linked intellectual disability t.. [+]A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28.
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Raynaud-Claes syndrome
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X-linked mental retardation 49; X-linked mental re..
[+]
X-linked mental retardation 49; X-linked mental retardation 15; MRX15; MRX49; MRXSRC
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A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2.
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chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
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X-linked dominant chondrodysplasia-hydrocephaly-mi..
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X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome; X-linked dominant chondrodysplasia, Chassaing-Lacombe type
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A syndrome characterized by chondrodysplasia assoc.. [+]A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23.
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McLeod syndrome
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X-linked McLeod syndrome; McLeod syndrome with or ..
[+]
X-linked McLeod syndrome; McLeod syndrome with or without chronic granulomatous disease; McLeod type neuroacanthocytosis; MLS; McLeod neuroacanthocytosis syndrome
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A neuroacanthocytosis characterized by absence of .. [+]A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1.
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De Sanctis-Cacchione syndrome
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xeroderma pigmentosum with neurologic manifestatio..
[+]
xeroderma pigmentosum with neurologic manifestation
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A xeroderma pigmentosum characterized by xeroderma.. [+]A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
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hydroxykynureninuria
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xanthurenic aciduria; kynureninase deficiency
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An amino acid metabolic disorder characterized by .. [+]An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2.
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