Clinical Signs and Symptoms
ORPHA:79321 ALG3-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 enzyme/coenzyme activity HP:0012379
Always present
- Abnormal cerebral morphology HP:0002060
- Abnormality of the gastrointestinal tract HP:0011024
- Feeding difficulties HP:0011968
- Global developmental delay HP:0001263
- Muscular hypotonia HP:0001252
- Recurrent infections HP:0002719
Very frequent
- Abnormality of cardiovascular system morphology HP:0030680
- Abnormality of limb bone morphology HP:0002813
- Abnormality of limbs HP:0040064
- Abnormality of the endocrine system HP:0000818
- Abnormality of the eye HP:0000478
- Abnormality of the genitourinary system HP:0000119
- Abnormality of the nose HP:0000366
- Abnormality of the pinna HP:0000377
- Abnormality of the respiratory system HP:0002086
- Decreased liver function HP:0001410
- Hearing impairment HP:0000365
- Microcephaly HP:0000252
- Osteopenia HP:0000938
- Seizures HP:0001250
Frequent
- Abnormality of blood and blood-forming tissues HP:0001871
- Brain atrophy HP:0012444
- Dystonia HP:0001332
- Hypertonia HP:0001276
- Inverted nipples HP:0003186
- Neural tube defect HP:0045005
- Spastic tetraparesis HP:0001285
Occasional
- Abnormality of the uvula HP:0000172
- Arthrogryposis multiplex congenita HP:0002804
- Cardiomyopathy HP:0001638
- Cataract HP:0000518
- Cerebral white matter atrophy HP:0012762
- Coarctation of the descending aortic arch HP:0012305
- Dandy-Walker malformation HP:0001305
- High palate HP:0000218
- Hypopigmentation of the skin HP:0001010
- Hypoplasia of the corpus callosum HP:0002079
- Hypoplasia of the pons HP:0012110
- Lipodystrophy HP:0009125
- Macroglossia HP:0000158
- Metaphyseal chondrodysplasia HP:0005871
- Nystagmus HP:0000639
- Pulmonary hypoplasia HP:0002089
- Subcortical cerebral atrophy HP:0012157
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.