Abnormal hair pattern|Abnormal hip bone morphology|Abnormal pyramidal sign|Abnormal skin morphology|Abnormality of the nervous system|Abnormally large globe|Absent thumbnail|Aganglionic megacolon|Agenesis of corpus callosum|Ambiguous genitalia|Anteverted nares|Atonic seizure|Atypical behavior|Autistic behavior|Axial hypotonia|Babinski sign|Bilateral tonic-clonic seizure|Broad alveolar ridges|Broad finger|Broad phalanx of the toes|Camptodactyly|Cerebellar atrophy|Cerebral cortical atrophy|Choreoathetosis|Cleft palate|Coarse facial features|Congenital onset|Cryptorchidism|Death in infancy|Decreased testicular size|Delayed CNS myelination|Delayed myelination|Delayed speech and language development|Depressed nasal bridge|Developmental regression|Diarrhea|Diffuse cerebral atrophy|Diffuse white matter abnormalities|Drooling|Duane anomaly|Dysarthria|Dyskinesia|Dysphagia|Dyspnea|Dystonia|EEG abnormality|EEG with burst suppression|EEG with spike-wave complexes|Epileptic encephalopathy|Episodic ataxia|Erratic myoclonus|Exocrine pancreatic insufficiency|Facial telangiectasia|Failure to thrive|Febrile seizure (within the age range of 3 months to 6 years)|Feeding difficulties|Feeding difficulties in infancy|Flexion contracture|Focal dystonia|Focal motor seizure|Focal tonic seizure|Focal-onset seizure|Gait disturbance|Generalized clonic seizure|Generalized hirsutism|Generalized hypotonia|Generalized myoclonic seizure|Generalized non-motor (absence) seizure|Generalized tonic seizure|Gliosis|Global brain atrophy|Global developmental delay|Growth delay|Hemiplegia|High forehead|High palate|Hirsutism|Hyperactivity|Hyperconvex nail|Hyperreflexia|Hypertonia|Hypohidrosis|Hypoplasia of penis|Hypoplasia of the corpus callosum|Hypospadias|Hypotonia|Hypsarrhythmia|Infantile muscular hypotonia|Infantile spasms|Inguinal hernia|Intellectual disability|Intellectual disability, mild|Intellectual disability, moderate|Intellectual disability, progressive|Intellectual disability, severe|Lethargy|Limb dystonia|Limb joint contracture|Lissencephaly|Long palpebral fissure|Long philtrum|Long upper lip|Low anterior hairline|Low-set ears|Lower limb spasticity|Macroorchidism|Malabsorption|Microcephaly|Micrognathia|Micropenis|Microphthalmia|Muscle stiffness|Myoclonus|Neonatal hypotonia|Neonatal onset|Nystagmus|Optic atrophy|Overlapping toe|Pachygyria|Patent ductus arteriosus|Periorbital fullness|Pes planus|Plagiocephaly|Poor head control|Poor suck|Precocious puberty|Profound global developmental delay|Prominent forehead|Prominent nasal bridge|Prominent supraorbital ridges|Protruding ear|Recurrent respiratory infections|Reduced eye contact|Renal dysplasia|Renal hypoplasia/aplasia|Rigidity|Scoliosis|Seizure|Self-injurious behavior|Sensorineural hearing impairment|Severe global developmental delay|Short finger|Short stature|Sleep abnormality|Sloping forehead|Spastic tetraparesis|Spastic tetraplegia|Spasticity|Specific learning disability|Status epilepticus|Strabismus|Synophrys|Tapered finger|Testicular dysgenesis|Tetraplegia|Thin upper lip vermilion|Tonic seizure|Tremor|Triangular face|Umbilical hernia|Uni- and bilateral multifocal epileptiform discharges|Ureterocele|Urinary incontinence|Ventricular septal defect|Ventriculomegaly|Visual impairment|Wide anterior fontanel|Wide nasal bridge|X-linked inheritance|X-linked recessive inheritance
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.
