Temple-Baraitser syndrome
ORPHA:420561DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)48
Частый (30–79%)28
HP:0000154Wide mouth
HP:0000252Microcephaly
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000400Macrotia
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000527Long eyelashes
HP:0000574Thick eyebrow
HP:0000684Delayed eruption of teeth
HP:0001250Seizure
HP:0001290Generalized hypotonia
HP:0001344Absent speech
HP:0001488Bilateral ptosis
HP:0001847Long hallux
HP:0002019Constipation
HP:0002058Myopathic facies
HP:0002353EEG abnormality
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0010624Aplastic/hypoplastic toenail
HP:0010864Intellectual disability, severe
HP:0011304Broad thumb
HP:0011344Severe global developmental delay
HP:0012443Abnormality of brain morphology
HP:0012471Thick vermilion border
Периодический (5–29%)20
HP:0010803Everted upper lip vermilion
HP:0010804Tented upper lip vermilion
HP:0012553Hypoplastic thumbnail
HP:0012555Absent nail of hallux
HP:0000194Open mouth
HP:0000212Gingival overgrowth
HP:0000218High palate
HP:0000232Everted lower lip vermilion
HP:0000272Malar flattening
HP:0000293Full cheeks
HP:0000294Low anterior hairline
HP:0000463Anteverted nares
HP:0001802Absent toenail
HP:0001804Hypoplastic fingernail
HP:0006016Delayed phalangeal epiphyseal ossification
HP:0009648Triangular shaped distal phalanx of the thumb
HP:0009660Short phalanx of the thumb
HP:0009882Short distal phalanx of finger
HP:0009890High anterior hairline
HP:0009928Thick nasal alae
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)