P044-NF2
Neurofibromatosis type 2 (NF2)
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P199-HEXA
Tay-sachs disease
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P214-COL2A1
Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal
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P280-SLC26A4
Pendred syndrome
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P026-Sotos
Sotos syndrome
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ME011-MMR
Mismatch repair genes (MMR)
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