Global developmental delay-osteopenia-ectodermal defect syndrome
ORPHA:73223Malformation syndromeUnknownChildhood
Фенотипы (HPO)39
Очень частый (80–99%)16
HP:0001382Joint hypermobility
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0000736Short attention span
HP:0000938Osteopenia
HP:0001072Thickened skin
HP:0003127Hypocalciuria
HP:0007018Attention deficit hyperactivity disorder
HP:0007387Hypoplastic sweat glands
HP:0007483Depigmentation/hyperpigmentation of skin
HP:0010719Abnormality of hair texture
HP:0011125Abnormality of dermal melanosomes
HP:0011368Epidermal thickening
HP:0025080Orthokeratotic hyperkeratosis
HP:0025160Abnormal temper tantrums
HP:0100710Impulsivity
Частый (30–79%)2
HP:0000750Delayed speech and language development
HP:0002353EEG abnormality
Периодический (5–29%)21
HP:0000233Thin vermilion border
HP:0000286Epicanthus
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0000689Dental malocclusion
HP:0001593Maxillary lateral incisor microdontia
HP:0001653Mitral regurgitation
HP:0003307Hyperlordosis
HP:0003691Scapular winging
HP:0005180Tricuspid regurgitation
HP:0011065Conical incisor
HP:0011074Localized hypoplasia of dental enamel
HP:0011220Prominent forehead
HP:0012365Hypophosphaturia
HP:0012520Dilation of Virchow-Robin spaces
HP:0040022Clinodactyly of the 2nd finger
HP:0040025Clinodactyly of the 4th finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)