Clinical Signs and Symptoms
ORPHA:370927 SSR4-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 facial shape HP:0001999
- Generalized hypotonia HP:0001290
- Global developmental delay HP:0001263
- Intellectual disability HP:0001249
- Microcephaly HP:0000252
Always present
- Abnormality of the gastrointestinal tract HP:0011024
- Abnormality of upper lip vermillion HP:0011339
- Deeply set eye HP:0000490
- Failure to thrive HP:0001508
- Feeding difficulties HP:0011968
- Gastroesophageal reflux HP:0002020
- Macrotia HP:0000400
- Strabismus HP:0000486
- Vomiting HP:0002013
- Wide mouth HP:0000154
- Widely spaced teeth HP:0000687
Very frequent
- Seizures HP:0001250
Frequent
- Abnormality of coagulation HP:0001928
- Abnormality of the cardiovascular system HP:0001626
- Abnormality of the periventricular white matter HP:0002518
- Abnormality of the skeletal system HP:0000924
- Absent septum pellucidum HP:0001331
- Horseshoe kidney HP:0000085
- Hypoplasia of the corpus callosum HP:0002079
- Joint dislocation HP:0001373
- Scoliosis HP:0002650
Occasional
- Abnormality of the coagulation cascade HP:0003256
- Patent ductus arteriosus HP:0001643
Rare
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.