Ring chromosome 21 syndrome
ORPHA:1445Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)1
HP:0001999Abnormal facial shape
Частый (30–79%)7
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0000141Amenorrhea
HP:0000252Microcephaly
HP:0000789Infertility
HP:0002353EEG abnormality
Периодический (5–29%)22
HP:0000027Azoospermia
HP:0000750Delayed speech and language development
HP:0000765Abnormal thorax morphology
HP:0000873Diabetes insipidus
HP:0000992Cutaneous photosensitivity
HP:0001159Syndactyly
HP:0001257Spasticity
HP:0001288Gait disturbance
HP:0001360Holoprosencephaly
HP:0001627Abnormal heart morphology
HP:0002123Generalized myoclonic seizure
HP:0002650Scoliosis
HP:0004283Narrow palm
HP:0004313Decreased circulating antibody level
HP:0004322Short stature
HP:0007565Multiple cafe-au-lait spots
HP:0008467Thoracic hemivertebrae
HP:0011171Simple febrile seizures
HP:0025190Bilateral tonic-clonic seizure with generalized onset
HP:0030039Fused thoracic vertebrae
HP:0030084Clinodactyly
HP:0200055Small hand
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)