Ulna hypoplasia-intellectual disability syndrome
ORPHA:2249Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)20
Очень частый (80–99%)18
HP:0000239Large fontanelles
HP:0000270Delayed cranial suture closure
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001387Joint stiffness
HP:0001802Absent toenail
HP:0001817Absent fingernail
HP:0001840Metatarsus adductus
HP:0001883Talipes
HP:0002983Micromelia
HP:0002984Hypoplasia of the radius
HP:0003022Hypoplasia of the ulna
HP:0003027Mesomelia
HP:0003042Elbow dislocation
HP:0003510Severe short stature
HP:0009465Ulnar deviation of finger
Частый (30–79%)2
HP:0010059Broad hallux phalanx
HP:0011304Broad thumb
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)