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| Term | congenital disorder of glycosylation type IIz | ID (Ontology) | DOID:0051053 (Human Disease) |
| Definition | A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. | ||
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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 genetic disease |__autosomal recessive disease___________________ congenital disorder of glycosylation | |__congenital disorder of glycosylation type II__| congenital disorder of glycosylation type IIz |
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| Is a |
congenital disorder of glycosylation type II autosomal recessive disease |
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| MIM:620201 | |||