Clinical Signs and Symptoms
ORPHA:447980 19p13.3 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.
- Abnormal facial shape HP:0001999
- Delayed speech and language development HP:0000750
- Global developmental delay HP:0001263
- Intrauterine growth retardation HP:0001511
- Microcephaly HP:0000252
Very frequent
- Absent speech HP:0001344
- Epicanthus HP:0000286
- Growth delay HP:0001510
- Intellectual disability, moderate HP:0002342
- Long face HP:0000276
- Long fingers HP:0100807
- Low-set ears HP:0000369
- Micrognathia HP:0000347
- Motor delay HP:0001270
- Myopia HP:0000545
- Narrow mouth HP:0000160
- Prominent nose HP:0000448
- Short philtrum HP:0000322
- Telecanthus HP:0000506
- Thick vermilion border HP:0012471
Frequent
- Amblyopia HP:0000646
- Cerebral atrophy HP:0002059
- Cleft palate HP:0000175
- Clinodactyly HP:0030084
- Constipation HP:0002019
- Downslanted palpebral fissures HP:0000494
- Episodic vomiting HP:0002572
- Febrile seizures HP:0002373
- Gastroesophageal reflux HP:0002020
- Hip dislocation HP:0002827
- Hip dysplasia HP:0001385
- Hip subluxation HP:0030043
- Horizontal nystagmus HP:0000666
- Hyperactivity HP:0000752
- Hypermetropia HP:0000540
- Intellectual disability, severe HP:0010864
- Inverted nipples HP:0003186
- Irritability HP:0000737
- Kyphoscoliosis HP:0002751
- Microtia HP:0008551
- Osteoporosis HP:0000939
- Pes cavus HP:0001761
- Posteriorly rotated ears HP:0000358
- Precocious puberty HP:0000826
- Pulmonary arterial hypertension HP:0002092
- Self-injurious behavior HP:0100716
- Sloping forehead HP:0000340
- Underdeveloped nasal alae HP:0000430
- Unilateral cryptorchidism HP:0012741
- Upslanted palpebral fissure HP:0000582
- Ventricular septal defect HP:0001629
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.