FOXG1 syndrome
ORPHA:561854DiseaseNeonatal
Фенотипы (HPO)49
Очень частый (80–99%)8
HP:0000253Progressive microcephaly
HP:0000486Strabismus
HP:0000733Abnormal repetitive mannerisms
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0011968Feeding difficulties
HP:0100660Dyskinesia
Частый (30–79%)28
HP:0000505Visual impairment
HP:0000729Autistic behavior
HP:0000749Paroxysmal bursts of laughter
HP:0000817Reduced eye contact
HP:0001257Spasticity
HP:0001266Choreoathetosis
HP:0001273Abnormal corpus callosum morphology
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0001344Absent speech
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002069Bilateral tonic-clonic seizure
HP:0002310Orofacial dyskinesia
HP:0002360Sleep abnormality
HP:0002487Hyperkinetic movements
HP:0003763Bruxism
HP:0003781Excessive salivation
HP:0004322Short stature
HP:0004325Decreased body weight
HP:0007359Focal-onset seizure
HP:0008850Severe postnatal growth retardation
HP:0011344Severe global developmental delay
HP:0012448Delayed myelination
HP:0012469Infantile spasms
HP:0030215Inappropriate crying
HP:0100022Abnormality of movement
HP:0100543Cognitive impairment
Периодический (5–29%)11
HP:0001274Agenesis of corpus callosum
HP:0001302Pachygyria
HP:0002079Hypoplasia of the corpus callosum
HP:0002376Developmental regression
HP:0002465Poor speech
HP:0002540Inability to walk
HP:0002650Scoliosis
HP:0002751Kyphoscoliosis
HP:0002795Abnormal respiratory system physiology
HP:0007766Optic disc hypoplasia
HP:0012760Reduced social responsiveness
Очень редкий (1–4%)2
HP:0002133Status epilepticus
HP:0012171Stereotypical hand wringing
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)