Tetrasomy 9p syndrome
ORPHA:3310Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)82
Частый (30–79%)12
HP:0000444Convex nasal ridge
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000363Abnormality of earlobe
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000545Myopia
HP:0000646Amblyopia
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0030434Pilomatrixoma
Периодический (5–29%)54
HP:0009099Median cleft palate
HP:0000010Recurrent urinary tract infections
HP:0000028Cryptorchidism
HP:0000110Renal dysplasia
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000239Large fontanelles
HP:0000286Epicanthus
HP:0000414Bulbous nose
HP:0000470Short neck
HP:0000532Chorioretinal abnormality
HP:0000577Exotropia
HP:0000639Nystagmus
HP:0000678Dental crowding
HP:0000682Abnormality of dental enamel
HP:0000789Infertility
HP:0000798Oligozoospermia
HP:0000882Hypoplastic scapulae
HP:0000921Missing ribs
HP:0000952Jaundice
HP:0000960Sacral dimple
HP:0001250Seizure
HP:0001290Generalized hypotonia
HP:0001302Pachygyria
HP:0001305Dandy-Walker malformation
HP:0001328Specific learning disability
HP:0001369Arthritis
HP:0001373Joint dislocation
HP:0001511Intrauterine growth retardation
HP:0001528Hemihypertrophy
HP:0001633Abnormal mitral valve morphology
HP:0001671Abnormal cardiac septum morphology
HP:0001701Pericarditis
HP:0001762Talipes equinovarus
HP:0002126Polymicrogyria
HP:0002143Abnormality of the spinal cord
HP:0002714Downturned corners of mouth
HP:0002725Systemic lupus erythematosus
HP:0004209Clinodactyly of the 5th finger
HP:0005562Multiple renal cysts
HP:0005912Biliary atresia
HP:0006710Aplasia/Hypoplasia of the clavicles
HP:0007598Bilateral single transverse palmar creases
HP:0011044Abnormal number of permanent teeth
HP:0011467Absent gallbladder
HP:0012378Fatigue
HP:0030031Small toe
HP:0030880Raynaud phenomenon
HP:0040262Glue ear
HP:0100614Myositis
HP:0200055Small hand
Очень редкий (1–4%)16
HP:0000054Micropenis
HP:0000085Horseshoe kidney
HP:0000256Macrocephaly
HP:0000322Short philtrum
HP:0000705Amelogenesis imperfecta
HP:0000719Inappropriate behavior
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0001339Lissencephaly
HP:0001537Umbilical hernia
HP:0001651Dextrocardia
HP:0001655Patent foramen ovale
HP:0002089Pulmonary hypoplasia
HP:0002092Pulmonary arterial hypertension
HP:0011646Juxtaductal coarctation of the aorta
HP:0011968Feeding difficulties
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 70 | 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)