hydroxysteroid 17-beta dehydrogenase 10
OMIM: 300256, Gene2Phenotype
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HSD17B10 in Optic neuropathy
Level 3: Posterior segment abnormalities
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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HSD17B10 in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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HSD17B10 in Likely inborn error of metabolism - targeted testing not possible
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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HSD17B10 in Possible mitochondrial disorder - nuclear genes
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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HSD17B10 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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HSD17B10 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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HSD17B10 in Early onset or syndromic epilepsy
Level 3: Inherited Epilepsy Syndromes
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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HSD17B10 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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HSD17B10 in Mitochondrial disorders
Level 3: Mitochondrial
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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HSD17B10 in Childhood onset dystonia, chorea or related movement disorder
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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HSD17B10 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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