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| Term | Seckel syndrome 2 | ID (Ontology) | DOID:0070013 (Human Disease) |
| Definition | A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. | ||
| Also Known As | "microcephalic primordial dwarfism 2" ; "SCKL2" ; "Seckel-type dwarfism 2" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease__ syndrome_____________________| Seckel syndrome |__Seckel syndrome 2 |
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| Is a | Seckel syndrome | ||
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MESH:C537534 MIM:606744 |
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