Ring chromosome 22 syndrome
ORPHA:1446Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)33
Частый (30–79%)30
HP:0000027Azoospermia
HP:0000252Microcephaly
HP:0000268Dolichocephaly
HP:0000276Long face
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000307Pointed chin
HP:0000400Macrotia
HP:0000414Bulbous nose
HP:0000574Thick eyebrow
HP:0000719Inappropriate behavior
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0000969Edema
HP:0001004Lymphedema
HP:0001067Neurofibromas
HP:0001176Large hands
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001510Growth delay
HP:0002066Gait ataxia
HP:0002376Developmental regression
HP:00046912-3 toe syndactyly
HP:0007328Impaired pain sensation
HP:0010808Protruding tongue
HP:0011800Midface retrusion
HP:0012471Thick vermilion border
HP:0012810Wide nasal base
HP:0100797Toenail dysplasia
Периодический (5–29%)3
HP:0001274Agenesis of corpus callosum
HP:0001331Absent septum pellucidum
HP:0002202Pleural effusion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)