Distal hereditary motor neuropathy type 1

Autosomal dominant

Adolescent, Adult, Childhood

Distal hereditary motor neuropathy type 2

Autosomal dominant

Adolescent, Adult

Distal hereditary motor neuropathy type 5

Autosomal dominant

Adolescent, Adult, Childhood

Distal hereditary motor neuropathy type 7

Autosomal dominant

Adolescent, Adult, Childhood

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive

Childhood

Distal limb deficiencies-micrognathia syndrome

Autosomal recessive

Neonatal

Distal monosomy 7q36 syndrome

Antenatal, Neonatal

Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy

Autosomal recessive

Distal myopathy

Autosomal dominant, Autosomal recessive

All ages

Distal myopathy with anterior tibial onset

Autosomal recessive

Adolescent, Adult

Distal myopathy, Tateyama type

Autosomal dominant

Adult

Distal myopathy, Welander type

Autosomal dominant

Adult

Distal myotilinopathy

Autosomal dominant

Adult, Elderly

Distal renal tubular acidosis

Autosomal dominant, Autosomal recessive, Not applicable

All ages

Distal renal tubular acidosis with anemia

Autosomal dominant

Infancy, Neonatal

Distal spinal muscular atrophy type 3

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Distal triplication 15q syndrome

Not applicable, Unknown

Infancy, Neonatal

Distomatosis

Not applicable

All ages

Dobrow syndrome

Antenatal, Infancy, Neonatal

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Autosomal dominant

Adult

Donnai-Barrow syndrome

Autosomal recessive

Antenatal, Neonatal

Donohue syndrome

Autosomal recessive

Antenatal, Neonatal

Dopa-responsive dystonia

Autosomal dominant, Autosomal recessive, Not applicable

Childhood

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive

Infancy, Neonatal