Fibrodysplasia ossificans progressiva (FOP)
Hutchinson-Gilford progeria syndrome
Niemann-Pick disease (types A, B, C)
Stiff person syndrome
Dravet syndrome
Alkaptonuria
Rett syndrome
Spinal muscular atrophy (SMA)
Gaucher disease
Prader-Willi syndrome
Amyoplasia (a form of arthrogryposis)
Wolfram syndrome
Erdheim-Chester disease
Alpha-mannosidosis
Mucopolysaccharidosis type I (Hurler syndrome)
Hypophosphatasia
Hereditary angioedema
Primary ciliary dyskinesia
Multiple sulfatase deficiency