solute carrier family 9 member A6
OMIM: 300231, Gene2Phenotype
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SLC9A6 in Ataxia and cerebellar anomalies - narrow panel
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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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Phenotypes
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SLC9A6 in Hereditary ataxia
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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Phenotypes
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SLC9A6 in Severe microcephaly
Level 3: DNA repair 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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Phenotypes
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SLC9A6 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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Phenotypes
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SLC9A6 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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SLC9A6 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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SLC9A6 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) |
Sources
Phenotypes
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SLC9A6 in Intellectual disability
Level 3: Neurodevelopmental 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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Phenotypes
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SLC9A6 in Hereditary ataxia with onset in adulthood
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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) |
Sources
Phenotypes
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SLC9A6 in Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
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SLC9A6 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) |
Sources
Phenotypes
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