AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
ORPHA:412069Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)5
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001270Motor delay
Частый (30–79%)15
HP:0000486Strabismus
HP:0000925Abnormality of the vertebral column
HP:0001250Seizure
HP:0001251Ataxia
HP:0001273Abnormal corpus callosum morphology
HP:0001382Joint hypermobility
HP:0001508Failure to thrive
HP:0001999Abnormal facial shape
HP:0002474Expressive language delay
HP:0002781Upper airway obstruction
HP:0002870Obstructive sleep apnea
HP:0011477Upbeat nystagmus
HP:0011968Feeding difficulties
HP:0012443Abnormality of brain morphology
HP:0031936Delayed ability to walk
Периодический (5–29%)25
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000385Small earlobe
HP:0000411Protruding ear
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000565Esotropia
HP:0000582Upslanted palpebral fissure
HP:0000717Autism
HP:0001363Craniosynostosis
HP:0001601Laryngomalacia
HP:0002079Hypoplasia of the corpus callosum
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0002779Tracheomalacia
HP:0004887Respiratory failure requiring assisted ventilation
HP:0005280Depressed nasal bridge
HP:0006951Retrocerebellar cyst
HP:0009909Uplifted earlobe
HP:0012448Delayed myelination
HP:0025267Snoring
HP:0025573Mild myopia
HP:0100704Cerebral visual impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)