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| Term | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | ID (Ontology) | DOID:0070513 (Human Disease) | |||||||||||||||||||||||
| Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. | |||||||||||||||||||||||||
| Also Known As | "NEDFBA" | |||||||||||||||||||||||||
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| DO.org | ||||||||||||||||||||||||||
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| Records annotated with this term OR any of its CHILD TERMS | ||||||||||||||||||||||||||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal dominant disease__ intellectual disability_____| autosomal dominant intellectual developmental disorder |__neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 17 rec. |
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| Is a | autosomal dominant intellectual developmental disorder | ||
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External Crossreferences & Linkouts
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| MIM:620489 | |||