Clinical Signs and Symptoms
ORPHA:261483 Xq27.3q28 duplication syndrome
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.
- Bulbous nose HP:0000414
- Cryptorchidism HP:0000028
- Decreased testicular size HP:0008734
- Deeply set eye HP:0000490
- Failure to thrive HP:0001508
- Global developmental delay HP:0001263
- High pitched voice HP:0001620
- Hypogonadism HP:0000135
- Intellectual disability, mild HP:0001256
- Short foot HP:0001773
- Short stature HP:0004322
- Small hand HP:0200055
- Thin vermilion border HP:0000233
Very frequent
- Delayed skeletal maturation HP:0002750
- Gynecomastia HP:0000771
- Intrauterine growth retardation HP:0001511
- Muscular hypotonia HP:0001252
- Sparse body hair HP:0002231
- Truncal obesity HP:0001956
Frequent
- Precocious menopause HP:0100805
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.