SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
OMIM: 300012, Gene2Phenotype
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SMARCA1 in ClinGen Gene Validity Curations
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review | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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SMARCA1 in Intellectual disability - microarray and sequencing
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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