LAS1 like, ribosome biogenesis factor
OMIM: 300964, Gene2Phenotype
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LAS1L 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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LAS1L in Hereditary neuropathy
Level 3: Motor and Sensory Disorders of the PNS
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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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LAS1L 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 |
Sources
Phenotypes
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LAS1L in Hereditary neuropathy or pain 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) |
Sources
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