Leistungsverzeichnis

Abdominal distention|Abdominal pain|Abnormal brainstem white matter morphology|Abnormal cerebral white matter morphology|Abnormal circulating fatty-acid concentration|Abnormal libido|Abnormal periventricular white matter morphology|Abnormal speech pattern|Abnormal spinal cord morphology|Abnormality of peripheral nervous system electrophysiology|Abnormality of skin pigmentation|Adrenal hypoplasia|Adrenal insufficiency|Adrenocortical abnormality|Adrenocorticotropic hormone excess|Aganglionic megacolon|Alopecia|Ankle clonus|Apraxia|Astereognosis|Ataxia|Atrophy of the spinal cord|Atrophy/Degeneration involving the corticospinal tracts|Attention deficit hyperactivity disorder|Atypical behavior|Axonal degeneration|Babinski sign|Back pain|Bilious emesis|Blindness|Bowel incontinence|Brain imaging abnormality|Bulbar palsy|Cataract|Cerebellar atrophy|Cerebral dysmyelination|Cholangitis|Cholestasis|CNS demyelination|Cognitive impairment|Colon perforation|Confusion|Constipation|Decreased circulating cortisol level|Decreased circulating vitamin B12 concentration|Delayed passage of meconium|Delayed somatosensory central conduction time|Dementia|Diarrhea|Diffuse demyelination of the cerebral white matter|Distal lower limb muscle weakness|Distal sensory impairment|Dorsal column degeneration|Dysarthria|Dysesthesia|Dysmetria|Dysphagia|Dystonia|Elevated circulating hepatic transaminase concentration|Elevated circulating long chain fatty acid concentration|Enterocolitis|Erectile dysfunction|Facial myokymia|Failure to thrive in infancy|Fatigue|Feeding difficulties|Female sexual dysfunction|Fine hair|Frontal balding|Functional abnormality of the gastrointestinal tract|Functional motor deficit|Gait disturbance|Generalized hyperreflexia|Global brain atrophy|Global developmental delay|Growth delay|Hamstring contractures|Hearing impairment|Hemiparesis|Hoffmann sign|Hyperactivity|Hyperpigmentation of the skin|Hyperreflexia|Hypogonadism|Impaired continence|Impaired vibration sensation at ankles|Impaired visuospatial constructive cognition|Impotence|Inability to walk|Incoordination|Increased circulating very long-chain fatty acid concentration|Intestinal obstruction|Intra-oral hyperpigmentation|Intrauterine growth retardation|Leg muscle stiffness|Limb ataxia|Limb myoclonus|Lip hyperpigmentation|Loss of speech|Lower limb muscle weakness|Lower limb spasticity|Male hypogonadism|Male sexual dysfunction|Memory impairment|Mental deterioration|Micrognathia|Myelopathy|Nasogastric tube feeding|Nausea and vomiting|Neurodegeneration|Oculomotor apraxia|Paraparesis|Peripheral axonal degeneration|Peripheral axonal neuropathy|Peripheral neuropathy|Polyhydramnios|Polyneuropathy|Primary adrenal insufficiency|Progressive|Progressive spastic paraparesis|Psychosis|Reduced visual acuity|Seizure|Sensorimotor neuropathy|Sensorineural hearing impairment|Sepsis|Short attention span|Short nose|Short stature|Slurred speech|Spastic gait|Spastic paraplegia|Spastic tetraparesis|Spasticity|Specific learning disability|Strabismus|Truncal ataxia|Urinary bladder sphincter dysfunction|Urinary incontinence|Urinary retention|Urinary urgency|Vegetative state|Ventriculomegaly|Very long chain fatty acid accumulation|Visual agnosia|Visual loss|Weight loss|X-linked recessive inheritance