As<unk>  is an extremely rare disorder a clear clinical picture of the disease has not been formed. However, the following symptoms may occur: *Multiple soft tissue masses which may experience temporary episodes of painful swelling. *Temporary episodes of generalised cutaneous swelling *Frequent episodes of otitis media. *Short stature. *Mildy dysmorphic facial features such as a flattened nasal bridge, bifid uvula and a submucosal cleft palate. *Joint movement and intellectual ability are unaffected.
Hyaluronidase deficiency
Sarcoglycanopathy
Biotinidase deficiency
Lysosomal storage disease
D-bifunctional protein deficiency
Congenital muscular dystrophy
Prolidase deficiency
Dolichol kinase deficiency