- Acute Flaccid Myelitis
- Alzheimer’s Disease
- Arteriovenous Malformations
- Attention Deficit Hyperactivity Disorder
- Back Pain
- Brain Aneurysm
- Brain Tumors
- Carpal Tunnel Syndrome
- Childhood Brain Tumors
- Delirium
- Dementia
- Hemorrhagic Stroke
- Ischemic Stroke
- Memory
- Meningitis
- Mild Cognitive Impairment
- Movement Disorders
- Multiple Sclerosis
- Neuroblastoma
- Neuromuscular Disorders
- Parkinson’s Disease
- Polio and Post-Polio Syndrome
- Speech and Language Problems in Children
- Stroke
- Transient Ischemic Attack
- Tremor
- Walking Problems
- West Nile Virus
- A1C
- Blood Glucose
- Diabetes
- Diabetes and Pregnancy
- Diabetes Complications
- Diabetes in Children and Teens
- Diabetes Medicines
- Diabetes Type 1
- Diabetes Type 2
- Diabetic Diet
- Diabetic Eye Problems
- Diabetic Foot
- Diabetic Heart Disease
- Diabetic Kidney Problems
- Diabetic Nerve Problems
- How to Prevent Diabetes
- Hyperglycemia
- Metabolic Syndrome
- Prediabetes
- Abortion
- Breast Cancer
- Breast Diseases
- Breast Reconstruction
- Breastfeeding
- Cervical Cancer
- Cervical Cancer Screening
- Cesarean Delivery
- Childbirth
- Ectopic Pregnancy
- Endometriosis
- Female Infertility
- Health Problems in Pregnancy
- High Blood Pressure in Pregnancy
- HIV and Pregnancy
- Hormone Replacement Therapy
- HPV
- Hysterectomy
- Infections and Pregnancy
- Mammography
- Mastectomy
- Menopause
- Menstruation
- Miscarriage
- Ovarian Cancer
- Ovarian Cysts
- Ovarian Disorders
- Pelvic Floor Disorders
- Pelvic Inflammatory Disease
- Pelvic Pain
- Period Pain
- Polycystic Ovary Syndrome
- Pregnancy
- Pregnancy and Drug Use
- Pregnancy and Opioids
- Premenstrual Syndrome
- Prenatal Care
- Prenatal Testing
- Primary Ovarian Insufficiency
- Sexual Problems in Women
- Stillbirth
- Teenage Pregnancy
- Trichomoniasis
- Tubal Ligation
- Uterine Cancer
- Uterine Diseases
- Uterine Fibroids
- Vaginal Bleeding
- Vaginal Cancer
- Vaginal Diseases
- Vaginitis
- Vulvar Cancer
- Vulvar Disorders
- Yeast Infections
- Alcohol
- Calcium
- Child Nutrition
- Cholesterol
- Cholesterol Levels: What You Need to Know
- Cholesterol Medicines
- DASH Eating Plan
- Eating Disorders
- Food Allergy
- HDL: The “Good” Cholesterol
- High Cholesterol in Children and Teens
- How to Lower Cholesterol
- How to Lower Cholesterol with Diet
- Infant and Newborn Nutrition
- LDL: The “Bad” Cholesterol
- Malabsorption Syndromes
- Nutrition for Older Adults
- Pregnancy and Nutrition
- Toddler Nutrition
- Triglycerides
- VLDL Cholesterol
- Alpha-1 Antitrypsin Deficiency
- Ataxia Telangiectasia
- Brain Malformations
- Cerebral Palsy
- Charcot-Marie-Tooth Disease
- Chiari Malformation
- Cleft Lip and Palate
- Color Blindness
- Congenital Heart Defects
- Craniofacial Abnormalities
- Cystic Fibrosis
- Ehlers-Danlos Syndrome
- Fetal Alcohol Spectrum Disorders
- Friedreich Ataxia
- Genetic Counseling
- Hemophilia
- Huntington’s Disease
- Hydrocephalus
- Muscular Dystrophy
- Neural Tube Defects
- Neurofibromatosis
- Newborn Screening
- Osteogenesis Imperfecta
- Prader-Willi Syndrome
- Pregnancy and Medicines
- Rett Syndrome
- Sickle Cell Disease
- Spina Bifida
- Spinal Muscular Atrophy
- Tay-Sachs Disease
- Tourette Syndrome
- Tuberous Sclerosis
- Usher Syndrome
- Acute Lymphocytic Leukemia
- Allergy
- Animal Bites
- Ankylosing Spondylitis
- Aplastic Anemia
- Asthma
- Asthma in Children
- Childhood Leukemia
- Childhood Vaccines
- Chronic Lymphocytic Leukemia
- COVID-19 Vaccines
- Cryptosporidiosis
- Eosinophilic Disorders
- Eosinophilic Esophagitis
- Giant Cell Arteritis
- Hay Fever
- HIV
- HIV and Infections
- HIV in Women
- Hodgkin Lymphoma
- Infectious Diseases
- Infectious Mononucleosis
- Juvenile Arthritis
- Kawasaki Disease
- Lymphedema
- Lymphoma
- Multiple Myeloma
- Pemphigus
- Pneumocystis Infections
- Rheumatoid Arthritis
- Scleroderma
- Sjogren’s Syndrome
- Tonsillitis
- Vaccines
- Viral Infections
- Adhesions
- Ankle Injuries and Disorders
- Arm Injuries and Disorders
- Back Injuries
- Brachial Plexus Injuries
- Burns
- Chest Injuries and Disorders
- Concussion
- CPR
- Dislocated Shoulder
- Dislocations
- Elbow Injuries and Disorders
- Eye Injuries
- Facial Injuries and Disorders
- Finger Injuries and Disorders
- Foot Injuries and Disorders
- Fractures
- Hand Injuries and Disorders
- Heel Injuries and Disorders
- Hip Injuries and Disorders
- Inhalation Injuries
- Insect Bites and Stings
- Jaw Injuries and Disorders
- Knee Injuries and Disorders
- Leg Injuries and Disorders
- Mosquito Bites
- Neck Injuries and Disorders
- Rotator Cuff Injuries
- Shoulder Injuries and Disorders
- Spinal Cord Injuries
- Sprains and Strains
- Tick Bites
- Toe Injuries and Disorders
- Traumatic Brain Injury
- Wrist Injuries and Disorders
- Acute Bronchitis
- Bird Flu
- Chronic Bronchitis
- COPD
- COVID-19 (Coronavirus Disease 2019)
- Croup
- E-Cigarettes
- Fistulas
- Flu
- Granulomatosis with Polyangiitis
- H1N1 Flu (Swine Flu)
- Legionnaires’ Disease
- Lung Cancer
- Mesothelioma
- Pneumonia
- Pulmonary Hypertension
- Respiratory Syncytial Virus Infections
- Sleep Apnea
- Smoking
- Tuberculosis
- Whooping Cough
- Anatomy
- Assisted Reproductive Technology
- Birth Control
- Chlamydia Infections
- Circumcision
- Erectile Dysfunction
- Genital Herpes
- Genital Warts
- Gonorrhea
- Herpes Simplex
- Infertility
- Male Infertility
- Penis Disorders
- Prostate Cancer
- Prostate Cancer Screening
- Prostate Diseases
- Reproductive Hazards
- Sexual Health
- Sexual Problems in Men
- Sexually Transmitted Diseases
- Syphilis
- Testicular Cancer
- Testicular Disorders
- Vasectomy
- Abdominal Pain
- Bad Breath
- Bleeding
- Breathing Problems
- Bruises
- Chest Pain
- Choking
- Chronic Pain
- Constipation
- Cough
- Diarrhea
- Dizziness and Vertigo
- Edema
- Fainting
- Fever
- Frostbite
- Gas
- Gastrointestinal Bleeding
- Headache
- Heartburn
- Heat Illness
- Hives
- Hypothermia
- Indigestion
- Itching
- Jaundice
- Nausea and Vomiting
- Pain
- Rare Diseases
- Raynaud’s Disease
- Sciatica
- Speech and Communication Disorders
- Stuttering
Genetic Brain Disorders
Summary
A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.
Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.
Some examples of genetic brain disorders include:
Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.
National Institute of Neurological Disorders and Stroke
Genetics
- 2-hydroxyglutaric aciduria: MedlinePlus Genetics National Library of Medicine
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: MedlinePlus Genetics National Library of Medicine
- 3-methylcrotonyl-CoA carboxylase deficiency: MedlinePlus Genetics National Library of Medicine
- 3-methylglutaconyl-CoA hydratase deficiency: MedlinePlus Genetics National Library of Medicine
- Adenylosuccinate lyase deficiency: MedlinePlus Genetics National Library of Medicine
- Alpha-mannosidosis: MedlinePlus Genetics National Library of Medicine
- Alpha-methylacyl-CoA racemase deficiency: MedlinePlus Genetics National Library of Medicine
- Aminoacylase 1 deficiency: MedlinePlus Genetics National Library of Medicine
- Arginase deficiency: MedlinePlus Genetics National Library of Medicine
- Arginine:glycine amidinotransferase deficiency: MedlinePlus Genetics National Library of Medicine
- Argininosuccinic aciduria: MedlinePlus Genetics National Library of Medicine
- Aromatic l-amino acid decarboxylase deficiency: MedlinePlus Genetics National Library of Medicine
- Aspartylglucosaminuria: MedlinePlus Genetics National Library of Medicine
- Beta-ketothiolase deficiency: MedlinePlus Genetics National Library of Medicine
- Beta-mannosidosis: MedlinePlus Genetics National Library of Medicine
- Biotinidase deficiency: MedlinePlus Genetics National Library of Medicine
- Childhood myocerebrohepatopathy spectrum: MedlinePlus Genetics National Library of Medicine
- Citrullinemia: MedlinePlus Genetics National Library of Medicine
- Coats plus syndrome: MedlinePlus Genetics National Library of Medicine
- Combined malonic and methylmalonic aciduria: MedlinePlus Genetics National Library of Medicine
- Dentatorubral-pallidoluysian atrophy: MedlinePlus Genetics National Library of Medicine
- Deoxyguanosine kinase deficiency: MedlinePlus Genetics National Library of Medicine
- Dihydrolipoamide dehydrogenase deficiency: MedlinePlus Genetics National Library of Medicine
- Dihydropyrimidine dehydrogenase deficiency: MedlinePlus Genetics National Library of Medicine
- Ethylmalonic encephalopathy: MedlinePlus Genetics National Library of Medicine
- Fabry disease: MedlinePlus Genetics National Library of Medicine
- Fragile X-associated tremor/ataxia syndrome: MedlinePlus Genetics National Library of Medicine
- Fucosidosis: MedlinePlus Genetics National Library of Medicine
- Fumarase deficiency: MedlinePlus Genetics National Library of Medicine
- GABA-transaminase deficiency: MedlinePlus Genetics National Library of Medicine
- Galactosemia: MedlinePlus Genetics National Library of Medicine
- GLUT1 deficiency syndrome: MedlinePlus Genetics National Library of Medicine
- Glutamate formiminotransferase deficiency: MedlinePlus Genetics National Library of Medicine
- Glutaric acidemia type I: MedlinePlus Genetics National Library of Medicine
- Glutathione synthetase deficiency: MedlinePlus Genetics National Library of Medicine
- GM1 gangliosidosis: MedlinePlus Genetics National Library of Medicine
- GRIN2B-related neurodevelopmental disorder: MedlinePlus Genetics National Library of Medicine
- Guanidinoacetate methyltransferase deficiency: MedlinePlus Genetics National Library of Medicine
- Hypermethioninemia: MedlinePlus Genetics National Library of Medicine
- Hyperprolinemia: MedlinePlus Genetics National Library of Medicine
- Isovaleric acidemia: MedlinePlus Genetics National Library of Medicine
- L1 syndrome: MedlinePlus Genetics National Library of Medicine
- Leigh syndrome: MedlinePlus Genetics National Library of Medicine
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: MedlinePlus Genetics National Library of Medicine
- Malonyl-CoA decarboxylase deficiency: MedlinePlus Genetics National Library of Medicine
- MECP2-related severe neonatal encephalopathy: MedlinePlus Genetics National Library of Medicine
- MEGDEL syndrome: MedlinePlus Genetics National Library of Medicine
- Menkes syndrome: MedlinePlus Genetics National Library of Medicine
- Mitochondrial complex III deficiency: MedlinePlus Genetics National Library of Medicine
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: MedlinePlus Genetics National Library of Medicine
- Mitochondrial neurogastrointestinal encephalopathy disease: MedlinePlus Genetics National Library of Medicine
- Molybdenum cofactor deficiency: MedlinePlus Genetics National Library of Medicine
- Moyamoya disease: MedlinePlus Genetics National Library of Medicine
- Mucolipidosis type IV: MedlinePlus Genetics National Library of Medicine
- Mucopolysaccharidosis type I: MedlinePlus Genetics National Library of Medicine
- Mucopolysaccharidosis type II: MedlinePlus Genetics National Library of Medicine
- Mucopolysaccharidosis type III: MedlinePlus Genetics National Library of Medicine
- Multiple sulfatase deficiency: MedlinePlus Genetics National Library of Medicine
- Myoclonic epilepsy with ragged-red fibers: MedlinePlus Genetics National Library of Medicine
- N-acetylglutamate synthase deficiency: MedlinePlus Genetics National Library of Medicine
- Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart: MedlinePlus Genetics National Library of Medicine
- Niemann-Pick disease: MedlinePlus Genetics National Library of Medicine
- Nonketotic hyperglycinemia: MedlinePlus Genetics National Library of Medicine
- Ornithine transcarbamylase deficiency: MedlinePlus Genetics National Library of Medicine
- Phosphoglycerate dehydrogenase deficiency: MedlinePlus Genetics National Library of Medicine
- Phosphoglycerate kinase deficiency: MedlinePlus Genetics National Library of Medicine
- Phosphoribosylpyrophosphate synthetase superactivity: MedlinePlus Genetics National Library of Medicine
- PMM2-congenital disorder of glycosylation: MedlinePlus Genetics National Library of Medicine
- Prion disease: MedlinePlus Genetics National Library of Medicine
- Prolidase deficiency: MedlinePlus Genetics National Library of Medicine
- Pyruvate dehydrogenase deficiency: MedlinePlus Genetics National Library of Medicine
- Schindler disease: MedlinePlus Genetics National Library of Medicine
- Short/branched chain acyl-CoA dehydrogenase deficiency: MedlinePlus Genetics National Library of Medicine
- Sialic acid storage disease: MedlinePlus Genetics National Library of Medicine
- Succinic semialdehyde dehydrogenase deficiency: MedlinePlus Genetics National Library of Medicine
- X-linked creatine deficiency: MedlinePlus Genetics National Library of Medicine
Specifics
- Aicardi Syndrome National Institute of Neurological Disorders and Stroke
- Alpers’ Disease National Institute of Neurological Disorders and Stroke
- Batten Disease National Institute of Neurological Disorders and Stroke
- Fabry Disease National Institute of Neurological Disorders and Stroke
- Fahr’s Syndrome National Institute of Neurological Disorders and Stroke
- Gerstmann-Straussler-Scheinker Disease National Institute of Neurological Disorders and Stroke
- Leigh Syndrome National Institute of Neurological Disorders and Stroke
- Lesch-Nyhan Syndrome National Institute of Neurological Disorders and Stroke
- Menkes Disease National Institute of Neurological Disorders and Stroke
- Moyamoya Disease National Institute of Neurological Disorders and Stroke
- Niemann-Pick Disease National Institute of Neurological Disorders and Stroke
- What Is a Urea Cycle Disorder? National Urea Cycle Disorders Foundation
- Zellweger Syndrome National Institute of Neurological Disorders and Stroke
Clinical Trials
- ClinicalTrials.gov: Brain Diseases, Metabolic, Inborn National Institutes of Health
- ClinicalTrials.gov: Niemann-Pick Diseases National Institutes of Health
Find an Expert
- Genetic and Rare Diseases Information Center Genetic and Rare Diseases Information Center
- National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke
Patient Handouts
- Lesch-Nyhan syndrome Medical Encyclopedia
- Maple syrup urine disease Medical Encyclopedia
- Menkes syndrome Medical Encyclopedia
- Neuronal ceroid lipofuscinoses (NCL) Medical Encyclopedia
- Niemann-Pick disease Medical Encyclopedia
Children
- Maple Syrup Urine Disease (MSUD) (For Parents) Nemours Foundation
Diagnosis and Tests
- Newborn Screening: MedlinePlus Health Topic National Library of Medicine
Journal Articles
Related Issues
- What Is a Pediatric Geneticist? American Academy of Pediatrics