FOXG1 syndrome due to 14q12 microdeletion
ORPHA:261144Clinical subtypeNot applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)15
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000411Protruding ear
HP:0000414Bulbous nose
HP:0000733Abnormal repetitive mannerisms
HP:0001252Hypotonia
HP:0001344Absent speech
HP:0001510Growth delay
HP:0002376Developmental regression
HP:0005280Depressed nasal bridge
HP:0009738Abnormality of the antihelix
HP:0010804Tented upper lip vermilion
HP:0010864Intellectual disability, severe
HP:0011968Feeding difficulties
Частый (30–79%)14
HP:0000158Macroglossia
HP:0000303Mandibular prognathia
HP:0000319Smooth philtrum
HP:0000494Downslanted palpebral fissures
HP:0000581Blepharophimosis
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0002020Gastroesophageal reflux
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003196Short nose
HP:0003781Excessive salivation
HP:0005487Prominent metopic ridge
HP:0100540Palpebral edema
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)