Intellectual disability, Buenos-Aires type
ORPHA:3079Malformation syndromeNeonatal
Фенотипы (HPO)30
Очень частый (80–99%)28
HP:0000218High palate
HP:0000252Microcephaly
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000340Sloping forehead
HP:0000400Macrotia
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000613Photophobia
HP:0000689Dental malocclusion
HP:0000768Pectus carinatum
HP:0001231Abnormal fingernail morphology
HP:0001249Intellectual disability
HP:0001537Umbilical hernia
HP:0001671Abnormal cardiac septum morphology
HP:0002064Spastic gait
HP:0002167Abnormality of speech or vocalization
HP:0002213Fine hair
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002683Abnormality of the calvaria
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0004349Reduced bone mineral density
HP:0004422Biparietal narrowing
HP:0006482Abnormal dental morphology
HP:0008407Hyperconvex thumb nails
HP:0008425Cuboid-shaped thoracolumbar vertebral bodies
HP:0010807Open bite
Частый (30–79%)2
HP:0000126Hydronephrosis
HP:0000581Blepharophimosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)