THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
ORPHA:363444Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)8
HP:0000164Abnormality of the dentition
HP:0000348High forehead
HP:0000490Deeply set eye
HP:0000750Delayed speech and language development
HP:0001999Abnormal facial shape
HP:0003189Long nose
HP:0009765Low hanging columella
HP:0040196Mild microcephaly
Частый (30–79%)12
HP:0000010Recurrent urinary tract infections
HP:0000119Abnormality of the genitourinary system
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000670Carious teeth
HP:0001263Global developmental delay
HP:0001627Abnormal heart morphology
HP:0002119Ventriculomegaly
HP:0006989Dysplastic corpus callosum
HP:0010864Intellectual disability, severe
HP:0012443Abnormality of brain morphology
Периодический (5–29%)24
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000077Abnormality of the kidney
HP:0000085Horseshoe kidney
HP:0000122Unilateral renal agenesis
HP:0000215Thick upper lip vermilion
HP:0000220Velopharyngeal insufficiency
HP:0000307Pointed chin
HP:0000337Broad forehead
HP:0000365Hearing impairment
HP:0000689Dental malocclusion
HP:0001328Specific learning disability
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001845Overlapping toe
HP:0002023Anal atresia
HP:0008209Premature ovarian insufficiency
HP:0009890High anterior hairline
HP:0010282Thin lower lip vermilion
HP:0011623Muscular ventricular septal defect
HP:0011682Perimembranous ventricular septal defect
HP:0012382Left-to-right shunt
HP:0012385Camptodactyly
HP:0030127Endometriosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)