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Becker nevus syndrome

ORPHA:64755DiseaseNot applicableAll ages

Ассоциированные гены (1)

ACTB
actin beta
Disease-causing somatic mutation(s) in
OMIM: 102630

Фенотипы (19)

Очень частый (80–99%)6
HP:0001034Hypermelanotic macule
HP:0002558Supernumerary nipple
HP:0002983Micromelia
HP:0003724Shoulder girdle muscle atrophy
HP:0010566Hamartoma
HP:0100578Lipoatrophy
Частый (30–79%)3
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0010311Aplasia/Hypoplasia of the breasts
Периодический (5–29%)10
HP:0000045Abnormality of the scrotum
HP:0000064Hypoplastic labia minora
HP:0000902Rib fusion
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002992Abnormality of tibia morphology
HP:0003298Spina bifida occulta
HP:0005815Supernumerary ribs
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы