Monosomy 9q22.3 syndrome
ORPHA:77301Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)31
HP:0000098Tall stature
HP:0000160Narrow mouth
HP:0000202Orofacial cleft
HP:0000243Trigonocephaly
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000369Low-set ears
HP:0000470Short neck
HP:0000486Strabismus
HP:0000488Retinopathy
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000752Hyperactivity
HP:0000767Pectus excavatum
HP:0000772Abnormal rib morphology
HP:0000925Abnormality of the vertebral column
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001520Large for gestational age
HP:0001537Umbilical hernia
HP:0002671Basal cell carcinoma
HP:0002885Medulloblastoma
HP:0005462Calcification of falx cerebri
HP:0010603Odontogenic keratocysts of the jaw
HP:0010610Palmar pits
HP:0010612Plantar pits
HP:0010617Cardiac fibroma
HP:0010618Ovarian fibroma
HP:0011330Metopic synostosis
HP:0011968Feeding difficulties
Частый (30–79%)13
HP:0001382Joint hypermobility
HP:0000238Hydrocephalus
HP:0000343Long philtrum
HP:0000494Downslanted palpebral fissures
HP:0000684Delayed eruption of teeth
HP:0001250Seizure
HP:0002119Ventriculomegaly
HP:0002308Chiari malformation
HP:0002808Kyphosis
HP:0003196Short nose
HP:0005616Accelerated skeletal maturation
HP:0009894Thickened ears
HP:0010442Polydactyly
Периодический (5–29%)2
HP:0002667Nephroblastoma
HP:0002859Rhabdomyosarcoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 42 | 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)