Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
ORPHA:436245DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)9
HP:0000430Underdeveloped nasal alae
HP:0000510Rod-cone dystrophy
HP:0000529Progressive visual loss
HP:0001118Juvenile cataract
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0002342Intellectual disability, moderate
HP:0004322Short stature
HP:0007675Progressive night blindness
Частый (30–79%)16
HP:0000272Malar flattening
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000470Short neck
HP:0000582Upslanted palpebral fissure
HP:0000689Dental malocclusion
HP:0000699Diastema
HP:0001133Constriction of peripheral visual field
HP:0001156Brachydactyly
HP:0001328Specific learning disability
HP:0002311Incoordination
HP:0007010Poor fine motor coordination
HP:0007791Patchy atrophy of the retinal pigment epithelium
HP:0007965Undetectable visual evoked potentials
HP:0009907Attached earlobe
HP:0010761Broad columella
Периодический (5–29%)2
HP:0000400Macrotia
HP:0000494Downslanted palpebral fissures
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)