Autism spectrum disorder due to AUTS2 deficiency
ORPHA:352490DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)3
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001999Abnormal facial shape
Частый (30–79%)24
HP:0000160Narrow mouth
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000520Proptosis
HP:0000722Compulsive behaviors
HP:0000729Autistic behavior
HP:0000733Abnormal repetitive mannerisms
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001328Specific learning disability
HP:0001488Bilateral ptosis
HP:0001518Small for gestational age
HP:0002553Highly arched eyebrow
HP:0004322Short stature
HP:0008762Repetitive compulsive behavior
HP:0008872Feeding difficulties in infancy
HP:0012745Short palpebral fissure
HP:0025112Sound sensitivity
Периодический (5–29%)28
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000278Retrognathia
HP:0000463Anteverted nares
HP:0000582Upslanted palpebral fissure
HP:0000752Hyperactivity
HP:0000964Eczematoid dermatitis
HP:0001250Seizure
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001347Hyperreflexia
HP:0001537Umbilical hernia
HP:0001627Abnormal heart morphology
HP:0001631Atrial septal defect
HP:0001760Abnormal foot morphology
HP:0002650Scoliosis
HP:0002803Congenital contracture
HP:0002804Arthrogryposis multiplex congenita
HP:0002808Kyphosis
HP:0004283Narrow palm
HP:0005274Prominent nasal tip
HP:0006184Decreased palmar creases
HP:0007018Attention deficit hyperactivity disorder
HP:0009183Joint contracture of the 5th finger
HP:0009473Joint contracture of the hand
HP:0012443Abnormality of brain morphology
HP:0100021Cerebral palsy
HP:0100277Periauricular skin pits
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | 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)