Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
ORPHA:1617Etiological subtypeNot applicableAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)28
Очень частый (80–99%)19
HP:0000175Cleft palate
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000525Abnormality iris morphology
HP:0000708Atypical behavior
HP:0001188Hand clenching
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001518Small for gestational age
HP:0001770Toe syndactyly
HP:0010078Bullet-shaped distal phalanx of the hallux
HP:0011344Severe global developmental delay
HP:0100490Camptodactyly of finger
HP:0100807Long fingers
HP:0000358Posteriorly rotated ears
Частый (30–79%)8
HP:0000190Abnormal oral frenulum morphology
HP:0000274Small face
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000589Coloboma
HP:0000729Autistic behavior
Периодический (5–29%)1
HP:0002871Central apnea
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 23 | 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)