Primary non-essential cutis verticis gyrata
ORPHA:357225DiseaseAdolescent, Childhood, Infancy, Neonatal
Фенотипы (HPO)16
Очень частый (80–99%)1
HP:0010541Cutis gyrata of scalp
Частый (30–79%)8
HP:0000290Abnormality of the forehead
HP:0000519Developmental cataract
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002171Gliosis
HP:0006889Intellectual disability, borderline
HP:0006970Periventricular leukomalacia
HP:0030455Abnormality of pattern visual evoked potentials
Периодический (5–29%)7
HP:0000252Microcephaly
HP:0001298Encephalopathy
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0002650Scoliosis
HP:0007663Reduced visual acuity
HP:0010562Keloids
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)