GM1 gangliosidosis

GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.

Mandibular prognathia

Abnormal prominence of the chin related to increased length of the mandible.


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PMID (PMCID)