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congenital disorder of glycosylation If
Summary
- Synonym
-
- congenital disorder of glycosylation 1f
- Definition
- A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080558
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75352 | Mannose-P-dolichol utilization defect 1 protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001371 | Flexion contracture |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002059 | Cerebral atrophy |
| HP:0003593 | Infantile onset |
| HP:0001344 | Absent speech |
| HP:0011344 | Severe global developmental delay |
| HP:0001252 | Hypotonia |
| HP:0000639 | Nystagmus |
| HP:0001508 | Failure to thrive |
| HP:0000962 | Hyperkeratosis |
