3p25.3 microdeletion syndrome
ORPHA:435638Malformation syndromeNot applicableInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)51
Очень частый (80–99%)1
HP:0001270Motor delay
Частый (30–79%)9
HP:0000356Abnormality of the outer ear
HP:0000448Prominent nose
HP:0000494Downslanted palpebral fissures
HP:0000733Abnormal repetitive mannerisms
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001344Absent speech
HP:0002002Deep philtrum
HP:0005280Depressed nasal bridge
Периодический (5–29%)41
HP:0000175Cleft palate
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000322Short philtrum
HP:0000341Narrow forehead
HP:0000347Micrognathia
HP:0000407Sensorineural hearing impairment
HP:0000463Anteverted nares
HP:0000568Microphthalmia
HP:0000581Blepharophimosis
HP:0000729Autistic behavior
HP:0000960Sacral dimple
HP:0001182Tapered finger
HP:00012332-3 finger syndactyly
HP:0001251Ataxia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001642Pulmonic stenosis
HP:0001643Patent ductus arteriosus
HP:0001677Coronaryartery atherosclerosis
HP:0001845Overlapping toe
HP:0002021Pyloric stenosis
HP:0002069Bilateral tonic-clonic seizure
HP:0002121Generalized non-motor (absence) seizure
HP:0002123Generalized myoclonic seizure
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002714Downturned corners of mouth
HP:0003086Acromesomelia
HP:0003202Skeletal muscle atrophy
HP:0006380Knee flexion contracture
HP:0006585Congenital pseudoarthrosis of the clavicle
HP:0007018Attention deficit hyperactivity disorder
HP:0009623Proximal placement of thumb
HP:0010055Broad hallux
HP:0010663Abnormality of thalamus morphology
HP:0011304Broad thumb
HP:0012762Cerebral white matter atrophy
HP:0100259Postaxial polydactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)