Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
ORPHA:324540Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)35
Частый (30–79%)32
HP:0000059Hypoplastic labia majora
HP:0000160Narrow mouth
HP:0000293Full cheeks
HP:0000358Posteriorly rotated ears
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000527Long eyelashes
HP:0000556Retinal dystrophy
HP:0000574Thick eyebrow
HP:0000637Long palpebral fissure
HP:0000648Optic atrophy
HP:0000687Widely spaced teeth
HP:0000691Microdontia
HP:0001182Tapered finger
HP:0001488Bilateral ptosis
HP:0001511Intrauterine growth retardation
HP:0001602Laryngeal stenosis
HP:0001686Loss of voice
HP:0001799Short nail
HP:0001822Hallux valgus
HP:0003186Inverted nipples
HP:0008757Unilateral vocal cord paralysis
HP:0009183Joint contracture of the 5th finger
HP:0009537Flexion contracture of the 2nd finger
HP:0009600Flexion contracture of thumb
HP:0010066Duplication of phalanx of hallux
HP:0010193Duplication of distal phalanx of toe
HP:0010864Intellectual disability, severe
HP:0011304Broad thumb
HP:0011968Feeding difficulties
HP:0012471Thick vermilion border
Периодический (5–29%)3
HP:0000046Small scrotum
HP:0000048Bifid scrotum
HP:0000064Hypoplastic labia minora
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)