Clinical Signs and Symptoms
ORPHA:261250 16q24.3 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.
- Autism HP:0000717
- High forehead HP:0000348
- Protruding ear HP:0000411
Very frequent
- Colpocephaly HP:0030048
- Frontal bossing HP:0002007
- High palate HP:0000218
- Hypoplasia of the corpus callosum HP:0002079
- Intellectual disability, moderate HP:0002342
- Long philtrum HP:0000343
- Micrognathia HP:0000347
- Optic nerve hypoplasia HP:0000609
- Periventricular heterotopia HP:0007165
- Pointed chin HP:0000307
- Seizures HP:0001250
- Smooth philtrum HP:0000319
- Ventriculomegaly HP:0002119
- Wide mouth HP:0000154
Frequent
- Abnormal hair pattern HP:0010720
- Anteverted nares HP:0000463
- Astigmatism HP:0000483
- Biparietal narrowing HP:0004422
- Chronic otitis media HP:0000389
- Cryptorchidism HP:0000028
- Delayed speech and language development HP:0000750
- Dilated cardiomyopathy HP:0001644
- Dysphagia HP:0002015
- Feeding difficulties HP:0011968
- Hearing impairment HP:0000365
- Highly arched eyebrow HP:0002553
- Hip dysplasia HP:0001385
- Increased mean corpuscular volume HP:0005518
- Kyphosis HP:0002808
- Long face HP:0000276
- Mitral regurgitation HP:0001653
- Myopia HP:0000545
- Nystagmus HP:0000639
- Preauricular skin tag HP:0000384
- Proximal placement of thumb HP:0009623
- Scoliosis HP:0002650
- Single median maxillary incisor HP:0006315
- Strabismus HP:0000486
- Thick vermilion border HP:0012471
- Thrombocytopenia HP:0001873
- Triangular face HP:0000325
- Upslanted palpebral fissure HP:0000582
- Ventricular septal defect HP:0001629
- Visual impairment HP:0000505
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.