Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
ORPHA:505237Malformation syndromeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)53
Очень частый (80–99%)2
HP:0001250Seizure
HP:0010864Intellectual disability, severe
Частый (30–79%)37
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000276Long face
HP:0000278Retrognathia
HP:0000343Long philtrum
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000445Wide nose
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000527Long eyelashes
HP:0000637Long palpebral fissure
HP:0000960Sacral dimple
HP:0001182Tapered finger
HP:0001187Hyperextensibility of the finger joints
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001344Absent speech
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001762Talipes equinovarus
HP:0001845Overlapping toe
HP:0002119Ventriculomegaly
HP:0002540Inability to walk
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0003121Limb joint contracture
HP:0004322Short stature
HP:0004325Decreased body weight
HP:0005469Flat occiput
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0011304Broad thumb
HP:0011968Feeding difficulties
Периодический (5–29%)13
HP:0000028Cryptorchidism
HP:0000729Autistic behavior
HP:0001166Arachnodactyly
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001770Toe syndactyly
HP:0002120Cerebral cortical atrophy
HP:0002510Spastic tetraplegia
HP:0008772Aplasia/Hypoplasia of the external ear
HP:0012450Chronic constipation
Очень редкий (1–4%)1
HP:0100021Cerebral palsy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)