Hepatic fibrosis-renal cysts-intellectual disability syndrome
ORPHA:2031Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)29
Очень частый (80–99%)3
HP:0000508Ptosis
HP:0001249Intellectual disability
HP:0002612Congenital hepatic fibrosis
Частый (30–79%)26
HP:0000358Posteriorly rotated ears
HP:0000430Underdeveloped nasal alae
HP:0000463Anteverted nares
HP:0000478Abnormality of the eye
HP:0000486Strabismus
HP:0000504Abnormality of vision
HP:0000505Visual impairment
HP:0000567Chorioretinal coloboma
HP:0000581Blepharophimosis
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001276Hypertonia
HP:0002093Respiratory insufficiency
HP:0002119Ventriculomegaly
HP:0002435Meningocele
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0000003Multicystic kidney dysplasia
HP:0000107Renal cyst
HP:0000162Glossoptosis
HP:0000364Hearing abnormality
HP:0000411Protruding ear
HP:0004322Short stature
HP:0004422Biparietal narrowing
HP:0007477Abnormal dermatoglyphics
HP:0100022Abnormality of movement
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)