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1,504 Possible Causes for HYPOCHONDROPLASIA,, LYS650GLN

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  • Skeletal Dysplasia

    We report here the discovery of three novel mutations (G1950T and G1950C [both resulting in Lys650Asn] and A1948C [Lys650Gln]) occurring in six individuals from five families[ncbi.nlm.nih.gov] Abstract Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric[ncbi.nlm.nih.gov] Achondroplasia-hypochondroplasia complex in a newborn infant.[lpamrs.memberclicks.net]

  • Laron Syndrome

    , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[en.wikipedia.org] ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia[en.wikipedia.org]

    Missing: LYS650GLN
  • Osteopetrosis

    , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[en.wikipedia.org] ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia[en.wikipedia.org]

    Missing: LYS650GLN
  • Coffin-Lowry Syndrome

    Together with his small size, short limbs and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of hypochondroplasia[ncbi.nlm.nih.gov]

    Missing: LYS650GLN
  • Piebaldism

    , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[en.wikipedia.org] ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia[en.wikipedia.org]

    Missing: LYS650GLN
  • Autosomal Dominant Familial Exudative Vitreoretinopathy

    , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[ipfs.io] ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia[ipfs.io]

    Missing: LYS650GLN
  • Amegakaryocytic Thrombocytopenia

    , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[en.wikipedia.org] ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia[en.wikipedia.org]

    Missing: LYS650GLN
  • Nephrogenic Diabetes Insipidus

    , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[en.wikipedia.org] ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia[en.wikipedia.org]

    Missing: LYS650GLN
  • Trigonocephaly

    ( Hypochondroplasia , Osteosclerosis congenita ) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita - Osteogenesis[wikidoc.org] Boomerang dysplasia - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata ( Rhizomelic chondrodysplasia punctata , Conradi-Hünermann syndrome ), Achondroplasia[wikidoc.org]

    Missing: LYS650GLN
  • Familial Male-Limited Precocious Puberty

    , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[en.wikipedia.org] ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia[en.wikipedia.org]

    Missing: LYS650GLN

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