Fatty acyl-CoA reductase 1 deficiency
ORPHA:438178DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)22
Частый (30–79%)9
HP:0000253Progressive microcephaly
HP:0001118Juvenile cataract
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001285Spastic tetraparesis
HP:0001510Growth delay
HP:0001999Abnormal facial shape
HP:0004322Short stature
Периодический (5–29%)13
HP:0000219Thin upper lip vermilion
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000400Macrotia
HP:0000508Ptosis
HP:0001272Cerebellar atrophy
HP:0001305Dandy-Walker malformation
HP:0002540Inability to walk
HP:0002553Highly arched eyebrow
HP:0003196Short nose
HP:0003698Difficulty standing
HP:0005280Depressed nasal bridge
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)