7q31 microdeletion syndrome
ORPHA:251061Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)50
Частый (30–79%)3
HP:0000750Delayed speech and language development
HP:0011098Speech apraxia
HP:0410018Recurrent ear infections
Периодический (5–29%)47
HP:0000154Wide mouth
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000327Hypoplasia of the maxilla
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000448Prominent nose
HP:0000473Torticollis
HP:0000506Telecanthus
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0000752Hyperactivity
HP:0001212Prominent fingertip pads
HP:0001249Intellectual disability
HP:0001260Dysarthria
HP:0001357Plagiocephaly
HP:0001511Intrauterine growth retardation
HP:0001611Hypernasal speech
HP:0001631Atrial septal defect
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002099Asthma
HP:0002167Abnormality of speech or vocalization
HP:0002205Recurrent respiratory infections
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0003202Skeletal muscle atrophy
HP:0008586Hypoplasia of the cochlea
HP:0008897Postnatal growth retardation
HP:0008936Axial hypotonia
HP:0010677Enuresis nocturna
HP:0011344Severe global developmental delay
HP:0011382Hypoplasia of the semicircular canal
HP:0011388Enlarged cochlear aqueduct
HP:0011470Nasogastric tube feeding in infancy
HP:0011474Childhood onset sensorineural hearing impairment
HP:0011648Patent ductus arteriosus after birth at term
HP:0012023Galactosuria
HP:0012146Abnormality of von Willebrand factor
HP:0012745Short palpebral fissure
HP:0012758Neurodevelopmental delay
HP:0012811Wide nasal ridge
HP:0020045Esodeviation
HP:0025160Abnormal temper tantrums
HP:0040022Clinodactyly of the 2nd finger
HP:0040326Hypoplasia of the olfactory bulb
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)