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Rare Disease Database

4 Search Results for: GRACILE


NORD Rare Disease Database

Hallermann Streiff Syndrome

Summary Hallermann-Streiff syndrome (HSS) is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region;...

Also known as: Francois dyscephaly syndrome , Hallermann-Streiff-Francois syndrome, HSS, oculomandibulodyscephaly with hypotrichosis , oculomandibulofacial syndrome

Primary Mitochondrial Myopathies

Summary Primary mitochondrial myopathies (PMM) are a group of disorders that are associated with changes in genetic material (e.g. depletions, deletions, or mutations)...

Also known as: PMM

NIH GARD Information

GRACILE syndrome

GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death....

Gracile bone dysplasia