Clinical Signs and Symptoms
ORPHA:217385 17p13.3 microduplication 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.
- Frontal bossing HP:0002007
- Global developmental delay HP:0001263
- High forehead HP:0000348
- Hypertelorism HP:0000316
- Hypotonia HP:0001252
- Narrow mouth HP:0000160
- Short nose HP:0003196
- Wide nose HP:0000445
Very frequent
- Downslanted palpebral fissures HP:0000494
- Low-set ears HP:0000369
- Short neck HP:0000470
Frequent
- Clinodactyly of the 5th finger HP:0004209
- Congenital hip dislocation HP:0001374
- High palate HP:0000218
- Hypoplasia of penis HP:0008736
- Hypoplasia of the corpus callosum HP:0002079
- Inguinal hernia HP:0000023
- Tall stature HP:0000098
- Ventriculomegaly HP:0002119
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.