RERE-related neurodevelopmental syndrome
ORPHA:494344Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)52
Частый (30–79%)9
HP:0001627Abnormal heart morphology
HP:0008897Postnatal growth retardation
HP:0011968Feeding difficulties
HP:0410263Brain imaging abnormality
HP:0000478Abnormality of the eye
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
Периодический (5–29%)43
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000076Vesicoureteral reflux
HP:0000119Abnormality of the genitourinary system
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000453Choanal atresia
HP:0000463Anteverted nares
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000545Myopia
HP:0000565Esotropia
HP:0000567Chorioretinal coloboma
HP:0000568Microphthalmia
HP:0000577Exotropia
HP:0000581Blepharophimosis
HP:0000612Iris coloboma
HP:0000648Optic atrophy
HP:0000659Peters anomaly
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0001250Seizure
HP:0001320Cerebellar vermis hypoplasia
HP:0001385Hip dysplasia
HP:0001629Ventricular septal defect
HP:0001999Abnormal facial shape
HP:0002007Frontal bossing
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002033Poor suck
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002650Scoliosis
HP:0007018Attention deficit hyperactivity disorder
HP:0007305CNS demyelination
HP:0011229Broad eyebrow
HP:0012803Anisometropia
HP:0031910Abnormal cranial nerve physiology
HP:0100704Cerebral visual impairment
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)