| Metadata | |
|---|---|
| ID | DOID:0080566 |
| Name | congenital disorder of glycosylation In |
| Definition | A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23111317 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation 1n [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |