Johnson neuroectodermal syndrome
ORPHA:2316Malformation syndromeAutosomal dominantChildhood
Фенотипы (HPO)27
Очень частый (80–99%)5
HP:0000135Hypogonadism
HP:0000405Conductive hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0001596Alopecia
HP:0008070Sparse hair
Частый (30–79%)9
HP:0000324Facial asymmetry
HP:0000411Protruding ear
HP:0000561Absent eyelashes
HP:0000670Carious teeth
HP:0001249Intellectual disability
HP:0002223Absent eyebrow
HP:0003510Severe short stature
HP:0008551Microtia
HP:0010628Facial palsy
Периодический (5–29%)13
HP:0000175Cleft palate
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000414Bulbous nose
HP:0000453Choanal atresia
HP:0000458Anosmia
HP:0000494Downslanted palpebral fissures
HP:0000966Hypohidrosis
HP:0001161Hand polydactyly
HP:0001177Preaxial hand polydactyly
HP:0001508Failure to thrive
HP:0001636Tetralogy of Fallot
HP:0007565Multiple cafe-au-lait spots
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)