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MIRAGE
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:0001999 | Abnormal facial shape |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0000958 | Dry skin |
| HP:0002650 | Scoliosis |
| HP:0000348 | High forehead |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0001263 | Global developmental delay |
| HP:0011968 | Feeding difficulties |
| HP:0002375 | Hypokinesia |
| HP:0000278 | Retrognathia |
