Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
ORPHA:457212DiseaseAutosomal recessiveAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)22
Частый (30–79%)13
HP:0000303Mandibular prognathia
HP:0000343Long philtrum
HP:0000400Macrotia
HP:0000712Emotional lability
HP:0000718Aggressive behavior
HP:0000742Self-mutilation
HP:0001263Global developmental delay
HP:0002378Hand tremor
HP:0002465Poor speech
HP:0002515Waddling gait
HP:0002705High, narrow palate
HP:0010864Intellectual disability, severe
HP:0045025Narrow palpebral fissure
Периодический (5–29%)9
HP:0000073Ureteral duplication
HP:0000574Thick eyebrow
HP:0000748Inappropriate laughter
HP:0000821Hypothyroidism
HP:0002540Inability to walk
HP:0002861Melanoma
HP:0003002Breast carcinoma
HP:0005580Duplication of renal pelvis
HP:0012114Endometrial carcinoma
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)