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CTGA Database Listing
Arab Genomic Studies
Records found: 2616 Sort by:
  • Intellectual Development Disorder with Short Stature, Facial Anomalies and Speech defects
    OMIM # 606220
    Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations, IDDSFAS
  • F-Box and Leucine-rich Repeat Protein 3
    OMIM # 605653
    FBXL3, F-Box and Leucine-rich Repeat Protein 3A; FBXL3A, FBL3A, FBL3
  • Mental Retardation, Autosomal Recessive 5
    OMIM # 611091
    MRT5
  • Muts Homolog 2
    OMIM # 609309
    MSH2, Muts, E. Coli, Homolog 2
  • Lynch Syndrome I
    OMIM # 120435
    Colorectal Cancer, Hereditary Nonpolyposis, Type 1, HNPCC1, Colon Cancer, Familial Nonpolyposis, Type 1, FCC1, COCA1, Lynch Syndrome II
  • Megarbane-Jalkh Syndrome
    OMIM # 612785
    Developmental delay, Dysmorphic Facial Features, Neonatal Spontaneous Fractures, Wrinkled Skin, and Hepatic Failure
  • Cohen Syndrome
    OMIM # 216550
    COH1, CHH1, Hypotonia Obesity and Prominent Incisors, Pepper Syndrome, CHS1
  • Dyssegmental Dysplasia, Rolland-Desbuquois Type
    OMIM # 224400
    DDRD, Dyssegmental Dwarfism, Rolland-Desbuquois Type, Anisospondylic Camptomicromelic Dwarfism, Rolland-Desbuquois Type
  • Biotinidase
    OMIM # 609019
    BTD
  • Biotinidase Deficiency
    OMIM # 253260
    Multiple Carboxylase Deficiency, Late-Onset, Multiple Carboxylase Deficiency, Juvenile-Onset, BTD Deficiency
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