ZTTK syndrome
ORPHA:500150Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)105
Облигатный (100%)1
HP:0001249Intellectual disability
Очень частый (80–99%)3
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0012443Abnormality of brain morphology
Частый (30–79%)15
HP:0000119Abnormality of the genitourinary system
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000729Autistic behavior
HP:0001382Joint hypermobility
HP:0001511Intrauterine growth retardation
HP:0001531Failure to thrive in infancy
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002197Generalized-onset seizure
HP:0002538Abnormality of the cerebral cortex
HP:0003508Proportionate short stature
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0010864Intellectual disability, severe
Периодический (5–29%)86
HP:0000085Horseshoe kidney
HP:0000122Unilateral renal agenesis
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000233Thin vermilion border
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000324Facial asymmetry
HP:0000327Hypoplasia of the maxilla
HP:0000341Narrow forehead
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000529Progressive visual loss
HP:0000545Myopia
HP:0000565Esotropia
HP:0000577Exotropia
HP:0000592Blue sclerae
HP:0000609Optic nerve hypoplasia
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000891Cervical ribs
HP:0000902Rib fusion
HP:0001027Soft, doughy skin
HP:0001166Arachnodactyly
HP:0001257Spasticity
HP:0001627Abnormal heart morphology
HP:0001631Atrial septal defect
HP:0002007Frontal bossing
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002028Chronic diarrhea
HP:0002097Emphysema
HP:0002121Generalized non-motor (absence) seizure
HP:0002126Polymicrogyria
HP:0002140Ischemic stroke
HP:0002212Curly hair
HP:0002283Global brain atrophy
HP:0002308Chiari malformation
HP:0002326Transient ischemic attack
HP:0002376Developmental regression
HP:0002500Abnormal cerebral white matter morphology
HP:0002578Gastroparesis
HP:0002579Gastrointestinal dysmotility
HP:0002714Downturned corners of mouth
HP:0002719Recurrent infections
HP:0002751Kyphoscoliosis
HP:0002878Respiratory failure
HP:0002937Hemivertebrae
HP:0002938Lumbar hyperlordosis
HP:0003100Slender long bone
HP:0003196Short nose
HP:0004315Decreased circulating IgG level
HP:0004433Secretory IgA deficiency
HP:0004442Sagittal craniosynostosis
HP:0004482Relative macrocephaly
HP:0005280Depressed nasal bridge
HP:0005639Hyperextensible hand joints
HP:0006956Dilation of lateral ventricles
HP:0006970Periventricular leukomalacia
HP:0006989Dysplastic corpus callosum
HP:0007100Progressive ventriculomegaly
HP:0007933Broad lateral eyebrow
HP:0008765Auditory hallucinations
HP:0009777Absent thumb
HP:0009879Simplified gyral pattern
HP:0010485Hyperextensibility at elbow
HP:0011220Prominent forehead
HP:0011330Metopic synostosis
HP:0011467Absent gallbladder
HP:0011471Gastrostomy tube feeding in infancy
HP:0011648Patent ductus arteriosus after birth at term
HP:0011819Submucous cleft soft palate
HP:0012582Bilateral renal dysplasia
HP:0025116Fetal distress
HP:0030707Unilateral lung agenesis
HP:0045075Sparse eyebrow
HP:0100307Cerebellar hemisphere hypoplasia
HP:0100702Arachnoid cyst
HP:0100704Cerebral visual impairment
HP:0430021Abnormal common carotid artery morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 33 | 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)