Ring chromosome 15 syndrome
ORPHA:96177Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)34
Очень частый (80–99%)1
HP:0004322Short stature
Частый (30–79%)12
HP:0000119Abnormality of the genitourinary system
HP:0000252Microcephaly
HP:0000325Triangular face
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0002750Delayed skeletal maturation
HP:0003561Birth length less than 3rd percentile
HP:0008872Feeding difficulties in infancy
HP:0030084Clinodactyly
Периодический (5–29%)21
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002714Downturned corners of mouth
HP:0002808Kyphosis
HP:0200055Small hand
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000750Delayed speech and language development
HP:0000798Oligozoospermia
HP:0000954Single transverse palmar crease
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0001328Specific learning disability
HP:0001627Abnormal heart morphology
HP:0001762Talipes equinovarus
HP:0002007Frontal bossing
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)