Clinical Signs and Symptoms
ORPHA:79318 PMM2-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.
- High palate HP:0000218
- Strabismus HP:0000486
- Upslanted palpebral fissure HP:0000582
Very frequent
- Abnormal facial shape HP:0001999
- Abnormal subcutaneous fat tissue distribution HP:0007552
- Anteverted nares HP:0000463
- Cerebellar hypoplasia HP:0001321
- Delayed myelination HP:0012448
- Delayed speech and language development HP:0000750
- Epicanthus HP:0000286
- Esotropia HP:0000565
- Feeding difficulties HP:0011968
- Global developmental delay HP:0001263
- Hypertelorism HP:0000316
- Hyporeflexia HP:0001265
- Inverted nipples HP:0003186
- Joint laxity HP:0001388
- Kyphoscoliosis HP:0002751
- Lipodystrophy HP:0009125
- Long face HP:0000276
- Long fingers HP:0100807
- Long philtrum HP:0000343
- Mandibular prognathia HP:0000303
- Muscular hypotonia of the trunk HP:0008936
- Osteopenia HP:0000938
- Osteoporosis HP:0000939
- Pes planus HP:0001763
- Prominent forehead HP:0011220
- Prominent nose HP:0000448
- Retrognathia HP:0000278
- Seizures HP:0001250
- Thin upper lip vermilion HP:0000219
- Vomiting HP:0002013
- Wide mouth HP:0000154
Frequent
- Abnormal liver parenchyma morphology HP:0030146
- Abnormal renal tubule morphology HP:0000091
- Abnormality of coordination HP:0011443
- Abnormality of skeletal morphology HP:0011842
- Abnormality of the pinna HP:0000377
- Aplasia of the ovary HP:0010463
- Aspiration pneumonia HP:0011951
- Ataxia HP:0001251
- Cataract HP:0000518
- Cerebellar vermis hypoplasia HP:0001320
- Decreased testicular size HP:0008734
- Elevated hepatic transaminase HP:0002910
- Enlarged cisterna magna HP:0002280
- Failure to thrive HP:0001508
- Fever HP:0001945
- Growth hormone excess HP:0000845
- Hepatic fibrosis HP:0001395
- Hyperinsulinemia HP:0000842
- Hyperplastic labia majora HP:0012882
- Hypoalbuminemia HP:0003073
- Hypogonadotrophic hypogonadism HP:0000044
- Increased circulating prolactin concentration HP:0000870
- Increased thyroid-stimulating hormone level HP:0002925
- Insulin resistance HP:0000855
- Intellectual disability HP:0001249
- Macrotia HP:0000400
- Multiple joint contractures HP:0002828
- Multiple renal cysts HP:0005562
- Myopia HP:0000545
- Nephrotic syndrome HP:0000100
- Pericardial effusion HP:0001698
- Peripheral neuropathy HP:0009830
- Photoreceptor layer loss on macular OCT HP:0030609
- Prominent nasal bridge HP:0000426
- Proteinuria HP:0000093
- Reduced antithrombin III activity HP:0001976
- Reduced factor IX activity HP:0011858
- Reduced factor XI activity HP:0001929
- Reduced thyroxin-binding globulin HP:0012509
- Respiratory distress HP:0002098
- Rod-cone dystrophy HP:0000510
Occasional
- Anasarca HP:0012050
- Angina pectoris HP:0001681
- Dandy-Walker malformation HP:0001305
- Deep venous thrombosis HP:0002625
- Hypertrophic cardiomyopathy HP:0001639
- Impaired antigen-specific response HP:0031404
- Impaired neutrophil chemotaxis HP:0040238
- Intracranial hemorrhage HP:0002170
- Lymphedema HP:0001004
- Pericarditis HP:0001701
- Platyspondyly HP:0000926
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.