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X-linked mental retardation; X-linked intellectual disability (XLID)

Genetics: - see many specific forms - defects in VCX3A are associated with some forms of X-linked nonspecific mental retardation - defects in FGD1 are a cause of non-syndromal X-linked mental retardation - implicated genes from CPT panels [3,4] - ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, SLC16A2 Clinical manifestations: - non-syndromic mental retardation patients do not manifest other clinical signs Laboratory: - X-linked intellectual disability genomic sequence analysis [3] - XLID gene duplication & deletion analysis [4]

Specific

mental retardation, X-linked (t-FBXO252/SHROOM4) mental retardation, X-linked 1 (non-dysmorphic) mental retardation, X-linked 2 (non-dysmorphic) mental retardation, X-linked 3 mental retardation, X-linked 4 mental retardation, X-linked 5 mental retardation, X-linked 6 mental retardation, X-linked 7 mental retardation, X-linked 8 mental retardation, X-linked 9 mental retardation, X-linked 10 mental retardation, X-linked 11 mental retardation, X-linked 12 mental retardation, X-linked 13 (MRX13) mental retardation, X-linked 14 mental retardation, X-linked 15 mental retardation, X-linked 16 mental retardation, X-linked 18 mental retardation, X-linked 19 mental retardation, X-linked 20 mental retardation, X-linked 21 mental retardation, X-linked 22 mental retardation, X-linked 23 mental retardation, X-linked 24 mental retardation, X-linked 25 mental retardation, X-linked 26 mental retardation, X-linked 27 mental retardation, X-linked 28 mental retardation, X-linked 29 mental retardation, X-linked 30 (MRX30, X-linked mental retardation type 47, MRX47) mental retardation, X-linked 32 mental retardation, X-linked 33 mental retardation, X-linked 34 mental retardation, X-linked 35 mental retardation, X-linked 36 mental retardation, X-linked 37 mental retardation, X-linked 38 mental retardation, X-linked 39 mental retardation, X-linked 40 mental retardation, X-linked 41 (mental retardation, X-linked 48) mental retardation, X-linked 42 mental retardation, X-linked 43 mental retardation, X-linked 44 mental retardation, X-linked 45 mental retardation, X-linked 46 mental retardation, X-linked 47 mental retardation, X-linked 49 mental retardation, X-linked 50 mental retardation, X-linked 51 mental retardation, X-linked 52 mental retardation, X-linked 53 mental retardation, X-linked 54 mental retardation, X-linked 55 mental retardation, X-linked 56 mental retardation, X-linked 57 mental retardation, X-linked 58 mental retardation, X-linked 59 mental retardation, X-linked 60 mental retardation, X-linked 61 mental retardation, X-linked 62 mental retardation, X-linked 63 mental retardation, X-linked 64 mental retardation, X-linked 65 mental retardation, X-linked 66 mental retardation, X-linked 67 mental retardation, X-linked 68 mental retardation, X-linked 69 mental retardation, X-linked 70 mental retardation, X-linked 72 mental retardation, X-linked 73 mental retardation, X-linked 74 mental retardation, X-linked 75 mental retardation, X-linked 76 mental retardation, X-linked 77 mental retardation, X-linked 78 mental retardation, X-linked 79 mental retardation, X-linked 80 mental retardation, X-linked 81 mental retardation, X-linked 82 mental retardation, X-linked 84 mental retardation, X-linked 89 mental retardation, X-linked 90 mental retardation, X-linked 91 mental retardation, X-linked 92 mental retardation, X-linked 94 mental retardation, X-linked, ARX-related (MRXARX) mental retardation, X-linked, syndromic 1; Partington syndrome (MRXS1) X-linked mental retardation 17; X-linked mental retardation 31 X-linked mental retardation FRAXE X-linked mental retardation KIAA2022 X-linked mental retardation syndromic

General

intellectual disability; mental retardation X-linked disease

References

  1. UniProt :accession Q9NNX9
  2. UniProt :accession O75914
  3. CPT :accession 81470
  4. CPT :accession 81471