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| Term | Warburg micro syndrome 1 | ID (Ontology) | DOID:0110716 (Human Disease) |
| Definition | A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. | ||
| Also Known As | "Micro Syndrome 1" ; "WARBM1" | ||
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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 recessive disease__ syndrome_____________________| Warburg micro syndrome |__Warburg micro syndrome 1 1 rec. |
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| Is a | Warburg micro syndrome | ||
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ICD10CM:Q87.0 MIM:600118 |
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