Intellectual disability-polydactyly-uncombable hair syndrome
ORPHA:3082Malformation syndromeNeonatal
Фенотипы (HPO)34
Очень частый (80–99%)34
HP:0000028Cryptorchidism
HP:0000174Abnormal palate morphology
HP:0000303Mandibular prognathia
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000446Narrow nasal bridge
HP:0000470Short neck
HP:0000582Upslanted palpebral fissure
HP:0000601Hypotelorism
HP:0000768Pectus carinatum
HP:0000772Abnormal rib morphology
HP:0001162Postaxial hand polydactyly
HP:0001249Intellectual disability
HP:0001595Abnormality of the hair
HP:0001770Toe syndactyly
HP:0001991Aplasia/Hypoplasia of toe
HP:0002007Frontal bossing
HP:0002217Slow-growing hair
HP:0002808Kyphosis
HP:0004209Clinodactyly of the 5th finger
HP:0004299Hernia of the abdominal wall
HP:0004322Short stature
HP:0005930Abnormality of epiphysis morphology
HP:0006265Aplasia/Hypoplasia of fingers
HP:0006610Wide intermamillary distance
HP:0008736Hypoplasia of penis
HP:0009738Abnormality of the antihelix
HP:0009896Abnormality of the antitragus
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0010059Broad hallux phalanx
HP:0010508Metatarsus valgus
HP:0010978Abnormality of immune system physiology
HP:0030056Uncombable hair
HP:0100840Aplasia/Hypoplasia of the eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)