STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
ORPHA:502434Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)3
HP:0000490Deeply set eye
HP:0001249Intellectual disability
HP:0001263Global developmental delay
Частый (30–79%)8
HP:0000028Cryptorchidism
HP:0000154Wide mouth
HP:0000426Prominent nasal bridge
HP:0000729Autistic behavior
HP:0001250Seizure
HP:0002020Gastroesophageal reflux
HP:0011968Feeding difficulties
HP:0045074Thin eyebrow
Периодический (5–29%)27
HP:0000050Hypoplastic male external genitalia
HP:0000085Horseshoe kidney
HP:0000202Orofacial cleft
HP:0000218High palate
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000486Strabismus
HP:0000527Long eyelashes
HP:0000664Synophrys
HP:0000954Single transverse palmar crease
HP:0000965Cutis marmorata
HP:0001252Hypotonia
HP:0001377Limited elbow extension
HP:0001382Joint hypermobility
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001566Widely-spaced maxillary central incisors
HP:0001999Abnormal facial shape
HP:0002650Scoliosis
HP:0002817Abnormality of the upper limb
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:00046912-3 toe syndactyly
HP:0010864Intellectual disability, severe
HP:0012444Brain atrophy
HP:0200134Epileptic encephalopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)