Noonan syndrome-like disorder with loose anagen hair
ORPHA:2701Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)29
Очень частый (80–99%)7
HP:0000465Webbed neck
HP:0002162Low posterior hairline
HP:0002209Sparse scalp hair
HP:0002750Delayed skeletal maturation
HP:0003196Short nose
HP:0004322Short stature
HP:0000358Posteriorly rotated ears
Частый (30–79%)9
HP:0000238Hydrocephalus
HP:0000286Epicanthus
HP:0000400Macrotia
HP:0000463Anteverted nares
HP:0000767Pectus excavatum
HP:0001639Hypertrophic cardiomyopathy
HP:0001642Pulmonic stenosis
HP:0002002Deep philtrum
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)13
HP:0000028Cryptorchidism
HP:0000174Abnormal palate morphology
HP:0000179Thick lower lip vermilion
HP:0000233Thin vermilion border
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000670Carious teeth
HP:0001156Brachydactyly
HP:0001231Abnormal fingernail morphology
HP:0001249Intellectual disability
HP:0001800Hypoplastic toenails
HP:0005108Abnormal intervertebral disk morphology
HP:0009811Abnormality of the elbow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 70 | Worldwide | Case(s) |
| 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)