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Advanced Download Gene List
  • L1CAM
    • Masa Syndrome
    • L1 Syndrome
    • Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
    • Congenital Clasped Thumb
  • ATRX
    • Alpha-Thalassemia Mental Retardation Syndrome
  • FOXP3
    • Ipex Syndrome
  • GPC3
    • Simpson–golabi–behmel Syndrome
  • MED12
    • Alpha-Thalassemia Mental Retardation Syndrome
    • Fg Syndrome
  • UBA1
    • X-Linked Spinal Muscular Atrophy Type 2
  • TIMM8A
    • Mohr–tranebjærg Syndrome
  • SLC20A2
    • Cyclopia
    • Primary Familial Brain Calcification
  • SYNE1
    • Emery–dreifuss Muscular Dystrophy
  • PRPS1
    • Arts Syndrome
  • PDGFRB
    • Primary Familial Brain Calcification
  • PCDH19
    • Epilepsy-Intellectual Disability In Females
  • LMNA
    • Emery–dreifuss Muscular Dystrophy
  • IFIH1
    • Singleton Merten Syndrome
  • ADAM10
    • Alzheimer Disease 18
  • OFD1
    • Orofaciodigital Syndrome 1
  • ISCU
    • Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
  • GPC4
    • Simpson–golabi–behmel Syndrome
  • SYNE2
    • Emery–dreifuss Muscular Dystrophy
  • PDGFB
    • Primary Familial Brain Calcification

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