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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:0001250 | Seizure |
| HP:0008064 | Ichthyosis |
| HP:0000648 | Optic atrophy |
| HP:0011968 | Feeding difficulties |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0000242 | Parietal bossing |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0002119 | Ventriculomegaly |
| HP:0012704 | Widened subarachnoid space |
| HP:0000824 | Decreased response to growth hormone stimulation test |
