Megalocornea-intellectual disability syndrome
ORPHA:2479Malformation syndromeChildhood, Infancy, Neonatal
Фенотипы (HPO)41
Очень частый (80–99%)8
HP:0000347Micrognathia
HP:0000485Megalocornea
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0002007Frontal bossing
HP:0002167Abnormality of speech or vocalization
HP:0010978Abnormality of immune system physiology
Частый (30–79%)19
HP:0001382Joint hypermobility
HP:0000194Open mouth
HP:0000218High palate
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000545Myopia
HP:0000593Abnormal anterior chamber morphology
HP:0000733Abnormal repetitive mannerisms
HP:0001182Tapered finger
HP:0001250Seizure
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002970Genu varum
HP:0004322Short stature
HP:0007676Hypoplasia of the iris
HP:0010508Metatarsus valgus
HP:0100693Iridodonesis
Периодический (5–29%)14
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000322Short philtrum
HP:0000407Sensorineural hearing impairment
HP:0000411Protruding ear
HP:0000483Astigmatism
HP:0000639Nystagmus
HP:0000821Hypothyroidism
HP:0000938Osteopenia
HP:0001251Ataxia
HP:0002353EEG abnormality
HP:0003124Hypercholesterolemia
HP:0009891Underdeveloped supraorbital ridges
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)