Clinical Signs and Symptoms
ORPHA:1724 Mosaic trisomy 20
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.
- Infantile muscular hypotonia HP:0008947
Very frequent
- Abnormality of the spinal cord HP:0002143
- Chronic constipation HP:0012450
- Depigmentation/hyperpigmentation of skin HP:0007483
- Down-sloping shoulders HP:0200021
- Hypopigmented streaks HP:0007535
- Mild global developmental delay HP:0011342
- Retrognathia HP:0000278
Frequent
- Abnormal mitral valve morphology HP:0001633
- Abnormality of the kidney HP:0000077
- Central hypotonia HP:0011398
- Cleft lip HP:0410030
- Cleft palate HP:0000175
- Clinodactyly HP:0030084
- Craniofacial asymmetry HP:0004484
- Cryptorchidism HP:0000028
- Delayed speech and language development HP:0000750
- Dysarthria HP:0001260
- Dysplastic tricuspid valve HP:0030732
- Fused cervical vertebrae HP:0002949
- Hearing impairment HP:0000365
- Horseshoe kidney HP:0000085
- Intrauterine growth retardation HP:0001511
- Kyphosis HP:0002808
- Limited pronation/supination of forearm HP:0006394
- Long neck HP:0000472
- Micrognathia HP:0000347
- Motor delay HP:0001270
- Narrow chest HP:0000774
- Scoliosis HP:0002650
- Specific learning disability HP:0001328
- Spinal canal stenosis HP:0003416
- Strabismus HP:0000486
- Upslanted palpebral fissure HP:0000582
- Ventricular septal defect HP:0001629
- Vertebral fusion HP:0002948
- Vertebral segmentation defect HP:0003422
- Wide intermamillary distance HP:0006610
Occasional
- Intellectual disability HP:0001249
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.