Clinical Signs and Symptoms
ORPHA:261197 Proximal 16p11.2 microdeletion 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.
- Global developmental delay HP:0001263
- Intellectual disability HP:0001249
- Language impairment HP:0002463
Very frequent
- Autism HP:0000717
- Broad forehead HP:0000337
- EEG abnormality HP:0002353
- Macrocephaly HP:0000256
- Malar flattening HP:0000272
- Seizures HP:0001250
Frequent
- Anophthalmia HP:0000528
- Aortic regurgitation HP:0001659
- Atrial septal defect HP:0001631
- Attention deficit hyperactivity disorder HP:0007018
- Cleft palate HP:0000175
- Congenital diaphragmatic hernia HP:0000776
- Feeding difficulties HP:0011968
- Gastroesophageal reflux HP:0002020
- Hand polydactyly HP:0001161
- Hemivertebrae HP:0002937
- Hypertelorism HP:0000316
- Micrognathia HP:0000347
- Microphthalmia HP:0000568
- Muscular hypotonia HP:0001252
- Myopia HP:0000545
- Obesity HP:0001513
- Optic nerve coloboma HP:0000588
- Psychosis HP:0000709
- Pyloric stenosis HP:0002021
- Scoliosis HP:0002650
- Strabismus HP:0000486
- Syringomyelia HP:0003396
- 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.