X-linked Emery-Dreifuss muscular dystrophy 1

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.

autosomal dominant Emery-Dreifuss muscular dystrophy 5

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.

autosomal dominant Emery-Dreifuss muscular dystrophy 7

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1.

autosomal dominant Emery-Dreifuss muscular dystrophy 2

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.

autosomal dominant Emery-Dreifuss muscular dystrophy 4

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2.

autosomal recessive Emery-Dreifuss muscular dystrophy 3

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.

X-linked Emery-Dreifuss muscular dystrophy 6

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.

Charcot-Marie-Tooth disease intermediate type

A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.

primary localized cutaneous amyloidosis 1

A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13.

selective IgM deficiency disease

A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.