Clinical Signs and Symptoms
ORPHA:263501 COG4-CDG
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal protein N-linked glycosylation HP:0012347
- Abnormal protein O-linked glycosylation HP:0012358
Very frequent
- Abnormality of the coagulation cascade HP:0003256
- Absent speech HP:0001344
- Ataxia HP:0001251
- Cirrhosis HP:0001394
- Complex febrile seizure HP:0011172
- Elevated circulating alkaline phosphatase concentration HP:0003155
- Elevated hepatic transaminase HP:0002910
- Failure to thrive in infancy HP:0001531
- Feeding difficulties HP:0011968
- Frontotemporal cerebral atrophy HP:0006892
- Generalized neonatal hypotonia HP:0008935
- Global developmental delay HP:0001263
- Growth delay HP:0001510
- Hepatosplenomegaly HP:0001433
- Hypercholesterolemia HP:0003124
- Hyperreflexia HP:0001347
- Intermittent diarrhea HP:0002254
- Irritability HP:0000737
- Limb hypertonia HP:0002509
- Microcephaly HP:0000252
- Muscular hypotonia of the trunk HP:0008936
- Nystagmus HP:0000639
- Recurrent upper respiratory tract infections HP:0002788
- Sloping forehead HP:0000340
- Thick hair HP:0100874
- Thrombocytopenia HP:0001873
- Type II transferrin isoform profile HP:0012301
Frequent
- Fatal liver failure in infancy HP:0006583
- Hypoplasia of the corpus callosum HP:0002079
- Neonatal sepsis HP:0040187
- Recurrent infection of the gastrointestinal tract HP:0004798
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.