Clinical Signs and Symptoms
ORPHA:263487 COG5-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.
- Delayed speech and language development HP:0000750
- Infantile muscular hypotonia HP:0008947
- Motor delay HP:0001270
Very frequent
- Intellectual disability, severe HP:0010864
- Low-set ears HP:0000369
- Microcephaly HP:0000252
- Posteriorly rotated ears HP:0000358
- Prominent nose HP:0000448
- Short stature HP:0004322
Frequent
- Abnormal isoelectric focusing of serum transferrin HP:0003160
- Abnormality of the frontal hairline HP:0000599
- Atrophy/Degeneration affecting the brainstem HP:0007366
- Autistic behavior HP:0000729
- Brain atrophy HP:0012444
- Brisk reflexes HP:0001348
- Camptodactyly of finger HP:0100490
- Cerebellar atrophy HP:0001272
- Cerebral visual impairment HP:0100704
- Cerebral white matter atrophy HP:0012762
- Cryptorchidism HP:0000028
- Delayed myelination HP:0012448
- Diffuse cerebral atrophy HP:0002506
- Dilation of lateral ventricles HP:0006956
- Elevated hepatic transaminase HP:0002910
- Finger clinodactyly HP:0040019
- Gastrostomy tube feeding in infancy HP:0011471
- Genu valgum HP:0002857
- Hepatomegaly HP:0002240
- Hepatosplenomegaly HP:0001433
- High palate HP:0000218
- Intellectual disability, mild HP:0001256
- Intellectual disability, moderate HP:0002342
- Intrauterine growth retardation HP:0001511
- Joint contracture of the hand HP:0009473
- Micropenis HP:0000054
- Neurogenic bladder HP:0000011
- Oligohydramnios HP:0001562
- Premature skin wrinkling HP:0100678
- Retrognathia HP:0000278
- Seizures HP:0001250
- Sensorineural hearing impairment HP:0000407
- Short neck HP:0000470
- Strabismus HP:0000486
- Truncal ataxia HP:0002078
- Urinary incontinence HP:0000020
- Wide nasal bridge HP:0000431
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.