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H01182
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Biotinidase deficiency
BTD deficiency
Late-onset multiple carboxylase deficiency
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Biotinidase deficiency is an autosomal recessive metabolic disorder in which the biotinidase is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin ...
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Inherited metabolic disorder
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BTD [HSA:686] [KO:K01435]
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H02637
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Brachycephaly, trichomegaly, and developmental delay
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Brachycephaly, trichomegaly, and developmental delay (BTDD), also known as MacInnes syndrome, is a novel ribosomopathy. Mutations in RPS23 gene, which encodes a small ribosomal subunit, have been reported ...
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Ribosomopathy
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RPS23 [HSA:6228] [KO:K02973]
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