Ring chromosome 13 syndrome
ORPHA:96176Malformation syndromeAntenatal, Childhood, Infancy, Neonatal
Фенотипы (HPO)42
Очень частый (80–99%)4
HP:0000252Microcephaly
HP:0001510Growth delay
HP:0001999Abnormal facial shape
HP:0010864Intellectual disability, severe
Частый (30–79%)12
HP:0000047Hypospadias
HP:0000048Bifid scrotum
HP:0000054Micropenis
HP:0000062Ambiguous genitalia
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000832Primary hypothyroidism
HP:0002652Skeletal dysplasia
HP:0005280Depressed nasal bridge
HP:0005927Aplasia/hypoplasia involving bones of the hand
Периодический (5–29%)21
HP:0000218High palate
HP:0000243Trigonocephaly
HP:0000286Epicanthus
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000470Short neck
HP:0000676Abnormality of the incisor
HP:0000717Autism
HP:0000957Cafe-au-lait spot
HP:0001000Abnormality of skin pigmentation
HP:0001290Generalized hypotonia
HP:0001596Alopecia
HP:0002007Frontal bossing
HP:0002023Anal atresia
HP:0002323Anencephaly
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0011301Absent foot
HP:0012211Abnormal renal physiology
HP:0030032Partial absence of foot
HP:0100779Urogenital sinus anomaly
Очень редкий (1–4%)5
HP:0000479Abnormal retinal morphology
HP:0001274Agenesis of corpus callosum
HP:0003256Abnormality of the coagulation cascade
HP:0005233Hypoplasia of the gallbladder
HP:0009919Retinoblastoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.72 | United Kingdom | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)