DYRK1A-related intellectual disability syndrome
ORPHA:464306Malformation syndromeAutosomal dominant, Not applicable, UnknownInfancy
Фенотипы (HPO)73
Очень частый (80–99%)8
HP:0000252Microcephaly
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001999Abnormal facial shape
HP:0003086Acromesomelia
HP:0011968Feeding difficulties
Частый (30–79%)13
HP:0000505Visual impairment
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000733Abnormal repetitive mannerisms
HP:0000739Anxiety
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0002119Ventriculomegaly
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002465Poor speech
HP:0011451Congenital microcephaly
Периодический (5–29%)30
HP:0000028Cryptorchidism
HP:0000341Narrow forehead
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000426Prominent nasal bridge
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000540Hypermetropia
HP:0000543Optic disc pallor
HP:0000545Myopia
HP:0000577Exotropia
HP:0000646Amblyopia
HP:0000752Hyperactivity
HP:0001166Arachnodactyly
HP:0001659Aortic regurgitation
HP:0001770Toe syndactyly
HP:0002013Vomiting
HP:0002020Gastroesophageal reflux
HP:0002079Hypoplasia of the corpus callosum
HP:0002120Cerebral cortical atrophy
HP:0002365Hypoplasia of the brainstem
HP:0002719Recurrent infections
HP:0002828Multiple joint contractures
HP:0004209Clinodactyly of the 5th finger
HP:0007957Corneal opacity
HP:0010442Polydactyly
HP:0010627Anterior pituitary hypoplasia
HP:0010864Intellectual disability, severe
HP:0011832Narrow nasal tip
Очень редкий (1–4%)22
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000107Renal cyst
HP:0000122Unilateral renal agenesis
HP:0000125Pelvic kidney
HP:0000126Hydronephrosis
HP:0000767Pectus excavatum
HP:0000964Eczematoid dermatitis
HP:0001562Oligohydramnios
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001650Aortic valve stenosis
HP:0001822Hallux valgus
HP:0002021Pyloric stenosis
HP:0002247Duodenal atresia
HP:0002280Enlarged cisterna magna
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003187Breast hypoplasia
HP:0003319Abnormality of the cervical spine
HP:0004322Short stature
HP:0010219Structural foot deformity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 54 | 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)