6q25.2q25.3 microdeletion syndrome
ORPHA:251056Malformation syndromeNot applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)4
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
Частый (30–79%)15
HP:0000218High palate
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0000377Abnormal pinna morphology
HP:0000431Wide nasal bridge
HP:0000478Abnormality of the eye
HP:0000494Downslanted palpebral fissures
HP:0000504Abnormality of vision
HP:0001274Agenesis of corpus callosum
HP:0001357Plagiocephaly
HP:0001508Failure to thrive
HP:0004322Short stature
HP:0012639Abnormal nervous system morphology
Периодический (5–29%)13
HP:0000175Cleft palate
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000582Upslanted palpebral fissure
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001319Neonatal hypotonia
HP:0001838Rocker bottom foot
HP:0002119Ventriculomegaly
HP:0003241External genital hypoplasia
HP:0004209Clinodactyly of the 5th finger
HP:0030680Abnormal cardiovascular system morphology
HP:0100490Camptodactyly of finger
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)