A rare disorder inherited as an autosomal recessive genetic trait. Characteristic features of this disorder include progressive loss of vision and hearing beginning in early childhood, diabetes mellitus, and obesity.
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Clinical features, literature and research. Includes guidelines for health care professionals.
Information centre and discussion forum for anyone with an interest in this disorder.
Sample report, plus links to organisations. [Fee required for full report]
Factsheet on this rare autosomal recessive condition, its epidemiology, presentation, differential diagnosis, investigations, management and prognosis.
Factsheet on this rare autosomal recessive condition, its epidemiology, presentation, differential diagnosis, investigations, management and prognosis.
Clinical features, literature and research. Includes guidelines for health care professionals.
Information centre and discussion forum for anyone with an interest in this disorder.
Sample report, plus links to organisations. [Fee required for full report]
Other languages 1
Last update:
September 25, 2015 at 18:05:54 UTC
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- Recently edited by fiduci
- Recently edited by fiduci