Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
ORPHA:1495Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)27
Очень частый (80–99%)11
HP:0000252Microcephaly
HP:0000384Preauricular skin tag
HP:0000411Protruding ear
HP:0001276Hypertonia
HP:0001510Growth delay
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002750Delayed skeletal maturation
HP:0006532Recurrent pneumonia
HP:0010864Intellectual disability, severe
HP:0010978Abnormality of immune system physiology
Частый (30–79%)6
HP:0000174Abnormal palate morphology
HP:0000347Micrognathia
HP:0001511Intrauterine growth retardation
HP:0001522Death in infancy
HP:0001883Talipes
HP:0100490Camptodactyly of finger
Периодический (5–29%)10
HP:0000160Narrow mouth
HP:0000348High forehead
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001608Abnormality of the voice
HP:0002020Gastroesophageal reflux
HP:0003196Short nose
HP:0004322Short stature
HP:0030680Abnormal cardiovascular system morphology
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)