X small rings syndrome
ORPHA:96201Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)40
Очень частый (80–99%)29
HP:0000219Thin upper lip vermilion
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000411Protruding ear
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000486Strabismus
HP:0000637Long palpebral fissure
HP:0001263Global developmental delay
HP:0000786Primary amenorrhea
HP:0000939Osteoporosis
HP:0001249Intellectual disability
HP:0001319Neonatal hypotonia
HP:0001510Growth delay
HP:0001629Ventricular septal defect
HP:0001647Bicuspid aortic valve
HP:0001718Mitral stenosis
HP:0001770Toe syndactyly
HP:0001999Abnormal facial shape
HP:0002162Low posterior hairline
HP:0002616Aortic root aneurysm
HP:0004349Reduced bone mineral density
HP:0010864Intellectual disability, severe
HP:0007642Congenital stationary night blindness
HP:0008209Premature ovarian insufficiency
HP:0011968Feeding difficulties
HP:0012725Cutaneous syndactyly
Частый (30–79%)3
HP:0001182Tapered finger
HP:0009824Upper limb undergrowth
HP:0009816Lower limb undergrowth
Периодический (5–29%)8
HP:0004209Clinodactyly of the 5th finger
HP:0001250Seizure
HP:0002069Bilateral tonic-clonic seizure
HP:0001562Oligohydramnios
HP:00046912-3 toe syndactyly
HP:0010945Fetal pyelectasis
HP:0400000Tall chin
HP:0001382Joint hypermobility
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)