TELO2-related intellectual disability-neurodevelopmental disorder
ORPHA:488642Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)5
HP:0001999Abnormal facial shape
HP:0002141Gait imbalance
HP:0010864Intellectual disability, severe
HP:0011344Severe global developmental delay
HP:0011451Congenital microcephaly
Частый (30–79%)15
HP:0000365Hearing impairment
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001257Spasticity
HP:0001344Absent speech
HP:0002465Poor speech
HP:0002540Inability to walk
HP:0004322Short stature
HP:00046924-5 toe syndactyly
HP:0008947Floppy infant
HP:0011968Feeding difficulties
HP:0030084Clinodactyly
HP:0030962Abnormal morphology of the great vessels
HP:0100022Abnormality of movement
HP:0100704Cerebral visual impairment
Периодический (5–29%)32
HP:0000081Duplicated collecting system
HP:0000175Cleft palate
HP:0000308Microretrognathia
HP:0000316Hypertelorism
HP:0000510Rod-cone dystrophy
HP:0000519Developmental cataract
HP:0000582Upslanted palpebral fissure
HP:0000592Blue sclerae
HP:0000768Pectus carinatum
HP:0001182Tapered finger
HP:0001251Ataxia
HP:0001276Hypertonia
HP:0001382Joint hypermobility
HP:0001511Intrauterine growth retardation
HP:0001583Rotary nystagmus
HP:0001734Annular pancreas
HP:0001773Short foot
HP:0001800Hypoplastic toenails
HP:0001838Rocker bottom foot
HP:0001845Overlapping toe
HP:0002714Downturned corners of mouth
HP:0002751Kyphoscoliosis
HP:0003273Hip contracture
HP:0004209Clinodactyly of the 5th finger
HP:0006380Knee flexion contracture
HP:0006979Sleep-wake cycle disturbance
HP:0007598Bilateral single transverse palmar creases
HP:0008513Bilateral conductive hearing impairment
HP:0008780Congenital bilateral hip dislocation
HP:0010296Ankyloglossia
HP:0020045Esodeviation
HP:0200055Small hand
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)