Tall stature-intellectual disability-renal anomalies syndrome
ORPHA:500095Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)47
Частый (30–79%)18
HP:0000256Macrocephaly
HP:0000407Sensorineural hearing impairment
HP:0000480Retinal coloboma
HP:0000494Downslanted palpebral fissures
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001520Large for gestational age
HP:0001629Ventricular septal defect
HP:0001634Mitral valve prolapse
HP:0001999Abnormal facial shape
HP:0004712Renal malrotation
HP:0011407Proportionate tall stature
HP:0012385Camptodactyly
HP:0012471Thick vermilion border
HP:0030037Bifid ureter
HP:0410252Chronic neutropenia
HP:0410255Transient neutropenia
Периодический (5–29%)29
HP:0000003Multicystic kidney dysplasia
HP:0000023Inguinal hernia
HP:0000105Enlarged kidney
HP:0000158Macroglossia
HP:0000286Epicanthus
HP:0000311Round face
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000518Cataract
HP:0000637Long palpebral fissure
HP:0000750Delayed speech and language development
HP:0001172Abnormal thumb morphology
HP:0001176Large hands
HP:0001707Abnormal right ventricle morphology
HP:0001762Talipes equinovarus
HP:0001833Long foot
HP:0001840Metatarsus adductus
HP:0001847Long hallux
HP:0002619Varicose veins
HP:0002667Nephroblastoma
HP:0002982Tibial bowing
HP:0003298Spina bifida occulta
HP:0011800Midface retrusion
HP:0031069Abnormal femoral torsion
HP:0100694Tibial torsion
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)