ATP binding cassette subfamily D member 1
OMIM: 300371, Gene2Phenotype
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ABCD1 in Peroxisomal disorders
Level 3: Peroxisomal 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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ABCD1 in Gene therapy clinical trials
Level 3: Clinical trials
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review | Not set |
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ABCD1 in Congenital adrenal hypoplasia
Level 3: Adrenal disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ABCD1 in White matter disorders and cerebral calcification - narrow panel
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ABCD1 in Adult onset leukodystrophy
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ABCD1 in Inherited white matter disorders
Level 3: White matter disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ABCD1 in Hereditary spastic paraplegia
Level 3: Motor Disorders of the CNS
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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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ABCD1 in Childhood onset hereditary spastic paraplegia
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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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ABCD1 in Adult onset hereditary spastic paraplegia
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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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ABCD1 in Adult onset neurodegenerative 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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ABCD1 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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ABCD1 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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ABCD1 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ABCD1 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ABCD1 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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ABCD1 in Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
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ABCD1 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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