Isolated childhood apraxia of speech
ORPHA:209908DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)23
Очень частый (80–99%)2
HP:0000750Delayed speech and language development
HP:0002167Abnormality of speech or vocalization
Частый (30–79%)10
HP:0001260Dysarthria
HP:0001328Specific learning disability
HP:0002465Poor speech
HP:0002474Expressive language delay
HP:0002546Incomprehensible speech
HP:0006977Grammar-specific speech disorder
HP:0007010Poor fine motor coordination
HP:0010863Receptive language delay
HP:0011098Speech apraxia
HP:0031434Abnormal speech prosody
Периодический (5–29%)6
HP:0002307Drooling
HP:0002339Abnormal caudate nucleus morphology
HP:0002340Caudate atrophy
HP:0007015Poor gross motor coordination
HP:0011968Feeding difficulties
HP:0012434Delayed social development
Очень редкий (1–4%)5
HP:0000176Submucous cleft hard palate
HP:0000396Overfolded helix
HP:0000729Autistic behavior
HP:0002705High, narrow palate
HP:0011228Horizontal eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 22 | 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)