Abnormal cerebral white matter morphology|Abnormal circulating cholesterol concentration|Abnormal involuntary eye movements|Abnormal libido|Abnormal pyramidal sign|Abnormality of eye movement|Abnormality of the sense of smell|Abnormally slow thought process|Absent speech|Addictive alcohol use|Aggressive behavior|Agitation|Anger|Ankle clonus|Anxiety|Apathy|Ataxia|Atypical behavior|Autosomal dominant inheritance|Autosomal recessive inheritance|Axial hypotonia|Babinski sign|Bradykinesia|Broad-based gait|Bruxism|Caudate atrophy|Cerebellar atrophy|Cerebellar vermis atrophy|Cerebral atrophy|Choking episodes|Chorea|Clonus|Clumsiness|Compulsive behaviors|Decreased body mass index|Degeneration of the striatum|Delusion|Dementia|Depression|Developmental regression|Disinhibition|Dysphagia|Dystonia|Excessive daytime somnolence|Feeding difficulties|Focal impaired awareness seizure|Gait ataxia|Gait disturbance|Gait imbalance|Generalized muscle weakness|Gliosis|Global developmental delay|Hallucinations|Hyperactivity|Hyperreflexia|Hypertonia|Hypokinesia|Impaired visuospatial constructive cognition|Inability to walk|Infantile onset|Insomnia|Intellectual disability, severe|Involuntary movements|Irritability|Kyphosis|Memory impairment|Mental deterioration|Motor stereotypy|Mutism|Myoclonus|Myopia|Neuronal loss in basal ganglia|Neuronal loss in central nervous system|Oral motor hypotonia|Oral-pharyngeal dysphagia|Personality changes|Polyphagia|Poor fine motor coordination|Progressive cerebellar ataxia|Rigidity|Scoliosis|Seizure|Short foot|Sleep abnormality|Small hand|Spasticity|Speech articulation difficulties|Staring gaze|Suicidal ideation|Tremor|Unsteady gait|Ventriculomegaly|Weight loss
Kosten
Die Kosten werden bei bestehender medizinischer Indikation über einen Überweisungsschein Typ 10 (EBM) abgerechnet. Humangenetische Leistungen sind nicht budgetrelevant.
Für privatversicherte Patienten sowie private Kostenträger (Krankenhäuser etc.) können auf Wunsch entsprechende Kostenvoranschläge erstellt werden.
