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| Macrocephaly_Megalencephaly v0.85 | BRWD3 | Chirag Patel Classified gene: BRWD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.85 | BRWD3 | Chirag Patel Gene: brwd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.84 | BRWD3 |
Chirag Patel gene: BRWD3 was added gene: BRWD3 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: BRWD3 were set to PMID: 30628072, 24462886 Phenotypes for gene: BRWD3 were set to Intellectual developmental disorder, X-linked 93; OMIM # 300659 Review for gene: BRWD3 was set to GREEN Added comment: 10 patients (from 6 unrelated families) with ID, macrocephaly and dysmorphic facial features. Sources: Literature |
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