A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichoth
SNOMEDCT-BE (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichoth / 723551003
A rare genetic disorder of metabolite absorption or transport with characteristics of persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a
A mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardi
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