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CTGA Database Listing
Arab Genomic Studies
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  • Bardet-Biedl Syndrome 2
    OMIM # 615981
    BBS2
  • Neurofibromatosis, Type I
    OMIM # 162200
    NF1, Neurofibromatosis, von Recklinghausen Disease, Neurofibromin, Neurofibromatosis, Type I with Leukemia, Neurofibromatosis, Type I with Glioma, NF1 Microdeletion Syndrome, NF1 Microduplication Syndrome
  • Neurofibromin 1
    OMIM # 613113
    Neurofibromin
  • Oligophrenin 1
    OMIM # 300127
    OPHN1, OPN1
  • Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance
    OMIM # 300486
    Mental Retardation, X-Linked 60, MRX60
  • Methyl-CpG Binding Protein 2
    OMIM # 300005
    MECP2
  • Rett Syndrome
    OMIM # 312750
    RTT, Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use, Rett Syndrome, Zappella Variant, Rett Syndrome, Preserved Speech Variant
  • ATP-Binding Cassette, Subfamily D, Member 1
    OMIM # 300371
    ABCD1, Adrenoleukodystrophy Protein, ALDP,
  • Adrenoleukodystrophy
    OMIM # 300100
    ALD, Addison Disease and Cerebral Sclerosis, Adrenomyeloneuropathy, AMN, Siemerling-Creutzfeldt Disease, Bronze Schilder Disease, Melanodermic Leukodystrophy,
  • Cornelia de Lange Syndrome 5
    OMIM # 300882
    CDLS5
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