Lathosterolosis
ORPHA:46059DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)6
HP:0000252Microcephaly
HP:0000518Cataract
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001830Postaxial foot polydactyly
HP:0008736Hypoplasia of penis
Частый (30–79%)39
HP:0000085Horseshoe kidney
HP:0000212Gingival overgrowth
HP:0000218High palate
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000340Sloping forehead
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000414Bulbous nose
HP:0000463Anteverted nares
HP:0000482Microcornea
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0001162Postaxial hand polydactyly
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001336Myoclonus
HP:0001399Hepatic failure
HP:0001406Intrahepatic cholestasis
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001770Toe syndactyly
HP:0001873Thrombocytopenia
HP:0001883Talipes
HP:0002240Hepatomegaly
HP:0002308Chiari malformation
HP:0002435Meningocele
HP:0002514Cerebral calcification
HP:0002714Downturned corners of mouth
HP:0003196Short nose
HP:0004422Biparietal narrowing
HP:0004823Anisopoikilocytosis
HP:0005487Prominent metopic ridge
HP:0007759Opacification of the corneal stroma
HP:0008278Cerebellar cortical atrophy
HP:0011875Abnormal platelet morphology
HP:0100711Abnormality of the thoracic spine
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)