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| Term | congenital disorder of deglycosylation 2 | ID (Ontology) | DOID:0060990 (Human Disease) |
| Definition | A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. | ||
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autosomal genetic disease |__autosomal recessive disease_____________ carbohydrate metabolic disorder | |__congenital disorder of deglycosylation__| congenital disorder of deglycosylation 2 |
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| Is a |
autosomal recessive disease congenital disorder of deglycosylation |
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| MIM:619775 | |||