Linear verrucous nevus syndrome
ORPHA:2611DiseaseNeonatal
Фенотипы (HPO)27
Очень частый (80–99%)6
HP:0000256Macrocephaly
HP:0000962Hyperkeratosis
HP:0009592Astrocytoma
HP:0100006Neoplasm of the central nervous system
HP:0002209Sparse scalp hair
HP:0012500Verrucous papule
Частый (30–79%)2
HP:0001250Seizure
HP:0001268Mental deterioration
Периодический (5–29%)19
HP:0000077Abnormality of the kidney
HP:0000481Abnormal cornea morphology
HP:0000486Strabismus
HP:0000518Cataract
HP:0000612Iris coloboma
HP:0000929Abnormal skull morphology
HP:0001305Dandy-Walker malformation
HP:0001770Toe syndactyly
HP:0001883Talipes
HP:0002119Ventriculomegaly
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0002816Genu recurvatum
HP:0004349Reduced bone mineral density
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008060Aplasia/Hypoplasia of the fovea
HP:0010049Short metacarpal
HP:0000488Retinopathy
HP:0002148Hypophosphatemia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)