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congenital disorder of glycosylation Ip
Summary
- Synonym
-
- congenital disorder of glycosylation 1p
- Definition
- A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080567
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003593 | Infantile onset |
| HP:0001252 | Hypotonia |
| HP:0001987 | Hyperammonemia |
| HP:0001319 | Neonatal hypotonia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003819 | Death in childhood |
| HP:0000294 | Low anterior hairline |
| HP:0001344 | Absent speech |
| HP:0011198 | EEG with generalized epileptiform discharges |
| HP:0003623 | Neonatal onset |
