19p13.3 microduplication syndrome
ORPHA:447980Malformation syndromeUnknownAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)5
HP:0000252Microcephaly
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0001999Abnormal facial shape
Частый (30–79%)15
HP:0000160Narrow mouth
HP:0000276Long face
HP:0000286Epicanthus
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000448Prominent nose
HP:0000506Telecanthus
HP:0000545Myopia
HP:0001270Motor delay
HP:0001344Absent speech
HP:0001510Growth delay
HP:0002342Intellectual disability, moderate
HP:0012471Thick vermilion border
HP:0100807Long fingers
Периодический (5–29%)31
HP:0000175Cleft palate
HP:0000340Sloping forehead
HP:0000358Posteriorly rotated ears
HP:0000430Underdeveloped nasal alae
HP:0000494Downslanted palpebral fissures
HP:0000540Hypermetropia
HP:0000582Upslanted palpebral fissure
HP:0000646Amblyopia
HP:0000666Horizontal nystagmus
HP:0000737Irritability
HP:0000752Hyperactivity
HP:0000826Precocious puberty
HP:0000939Osteoporosis
HP:0001385Hip dysplasia
HP:0001629Ventricular septal defect
HP:0001761Pes cavus
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002059Cerebral atrophy
HP:0002092Pulmonary arterial hypertension
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002572Episodic vomiting
HP:0002751Kyphoscoliosis
HP:0002827Hip dislocation
HP:0003186Inverted nipples
HP:0008551Microtia
HP:0010864Intellectual disability, severe
HP:0012741Unilateral cryptorchidism
HP:0030043Hip subluxation
HP:0030084Clinodactyly
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)