Fragiles X-assoziiertes Tremor-Ataxie-Syndrom (FXTAS)

Abnormal autonomic nervous system physiology|Abnormal brainstem morphology|Abnormal head movements|Abnormal speech pattern|Abnormal temper tantrums|Abnormally high-pitched voice|Action tremor|Adult onset|Aggressive behavior|Agitation|Anxiety|Aortic root aneurysm|Ascending tubular aorta aneurysm|Ataxia|Attention deficit hyperactivity disorder|Autism|Autistic behavior|Autoimmunity|Bowel incontinence|Bradykinesia|Bulbous nose|Cerebellar atrophy|Cerebral cortical atrophy|Childhood onset|Chronic otitis media|Coarse facial features|Compulsive behaviors|Congenital macroorchidism|Cryptorchidism|Decreased testicular size|Deeply set eye|Delayed gross motor development|Delayed skeletal maturation|Delayed speech and language development|Dementia|Depression|Diabetes mellitus|Diffuse cerebellar atrophy|Diffuse cerebral atrophy|Disinhibition|Dysarthria|Dyscalculia|Dysdiadochokinesis|Dysesthesia|Dysmetria|Dysphagia|Excessive shyness|Failure to thrive|Folate-dependent fragile site at Xq28|Frontal bossing|Gait ataxia|Gait disturbance|Gastroesophageal reflux|Global developmental delay|Gynecomastia|Hearing impairment|Hyperactivity|Hypertension|Hyperthyroidism|Hypogonadism|Hyporeflexia|Hypotension|Hypothyroidism|Hypotonia|Impaired distal vibration sensation|Impaired tandem gait|Impotence|Increased circulating gonadotropin level|Inertia|Intellectual disability|Intellectual disability, mild|Intellectual disability, moderate|Intention tremor|Intrauterine growth retardation|Irregular menstruation|Irritability|Joint hypermobility|Large forehead|Late onset|Long face|Lower limb muscle weakness|Macrocephaly|Macroorchidism|Macroorchidism, postpubertal|Macrotia|Mandibular prognathia|Mask-like facies|Memory impairment|Mental deterioration|Metacarpophalangeal joint hyperextensibility|Mitral valve prolapse|Motor delay|Motor stereotypy|Muscle weakness|Myalgia|Narrow face|Nystagmus|Obsessive-compulsive trait|Otitis media|Parkinsonism|Pectus excavatum|Peripheral neuropathy|Periventricular heterotopia|Pes planus|Pollakisuria|Poor fine motor coordination|Postural instability|Postural tremor|Premature ovarian insufficiency|Prominent forehead|Protruding ear|Recurrent hand flapping|Recurrent otitis media|Reduced eye contact|Reduced social responsiveness|Resting tremor|Rigidity|Saccadic smooth pursuit|Scoliosis|Seizure|Self-biting|Self-injurious behavior|Short attention span|Short foot|Short stature|Sinusitis|Sleep abnormality|Small hand|Sparse body hair|Specific learning disability|Strabismus|Thin skin|Thin vermilion border|Truncal obesity|Typified by incomplete penetrance|Ubiquitin-positive cerebral inclusion bodies|Urinary bladder sphincter dysfunction|Urinary incontinence|X-linked dominant inheritance|X-linked inheritance