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CTGA Database Listing
Arab Genomic Studies
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  • Spastic Paraplegia 18, Autosomal Recessive
    OMIM # 611225
    SPG18, Intellectual Disability, Motor Dysfunction, and Joint Contractures, IDMDC,
  • Hamamy Syndrome
    OMIM # 611174
    HMMS, Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility
  • Mental Retardation, Autosomal Recessive 5
    OMIM # 611091
    MRT5
  • Microphthalmia, Isolated 5
    OMIM # 611040
    MCOP5, Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen,
  • Osteogenesis Imperfecta, Type XI
    OMIM # 610968
    OI11, OI Type XI ,
  • Surfactant Metabolism Dysfunction, Pulmonary, 3
    OMIM # 610921
    SMDP3, Pulmonary Alveolar Proteinosis, Congenital, 3, Interstitial Lung Disease due to ABCA3 Deficiency
  • Neutropenia, Severe Congenital, 3, Autosomal Recessive
    OMIM # 610738
    SCN3, Kostmann Disease, Agranulocytosis, Infantile,
  • Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
    OMIM # 610706
    Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia, Deafness with LAMM
  • Joubert Syndrome 6
    OMIM # 610688
    JBTS6
  • Split-Hand/Foot Malformation with Long Bone Deficiency 2
    OMIM # 610685
    SHFLD2, Cleft Hand and Absent Tibia, Aplasia of Tibia with Ectrodactyly, Ectrodactyly with Aplasia of Long Bones, Tibial Aplasia with Split-Hand/Split Foot Deformity
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