Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
ORPHA:522077DiseaseAutosomal dominantInfancy
Ассоциированные гены1
Фенотипы (HPO)60
Очень частый (80–99%)6
HP:0000729Autistic behavior
HP:0001270Motor delay
HP:0001344Absent speech
HP:0002353EEG abnormality
HP:0008947Floppy infant
HP:0011344Severe global developmental delay
Частый (30–79%)12
HP:0000486Strabismus
HP:0000565Esotropia
HP:0000639Nystagmus
HP:0000733Abnormal repetitive mannerisms
HP:0000817Reduced eye contact
HP:0001249Intellectual disability
HP:0002013Vomiting
HP:0002020Gastroesophageal reflux
HP:0002360Sleep abnormality
HP:0002487Hyperkinetic movements
HP:0008762Repetitive compulsive behavior
HP:0025152Poor visual behavior for age
Периодический (5–29%)42
HP:0025247Dermoid cyst
HP:0040296Abnormal location of the eyebrow
HP:0100248Hemiballismus
HP:0000219Thin upper lip vermilion
HP:0000244Brachyturricephaly
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000349Widow's peak
HP:0000540Hypermetropia
HP:0000713Agitation
HP:0000739Anxiety
HP:0000742Self-mutilation
HP:0001251Ataxia
HP:0001266Choreoathetosis
HP:0001332Dystonia
HP:0001382Joint hypermobility
HP:0001601Laryngomalacia
HP:0001631Atrial septal defect
HP:0001776Bilateral talipes equinovarus
HP:0002072Chorea
HP:0002465Poor speech
HP:0002650Scoliosis
HP:0002871Central apnea
HP:0002883Hyperventilation
HP:0002938Lumbar hyperlordosis
HP:0003196Short nose
HP:00046912-3 toe syndactyly
HP:0004879Intermittent hyperventilation
HP:0005274Prominent nasal tip
HP:0005876Progressive flexion contractures
HP:0007874Almond-shaped palpebral fissure
HP:0008081Pes valgus
HP:0008138Equinus calcaneus
HP:0010535Sleep apnea
HP:0010850EEG with spike-wave complexes
HP:0011194EEG with series of focal spikes
HP:0011196EEG with focal sharp waves
HP:0011228Horizontal eyebrow
HP:0011445Athetoid cerebral palsy
HP:0011968Feeding difficulties
HP:0012169Self-biting
HP:0012448Delayed myelination
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)