| DISORDER | TOTAL |
|---|
| Achondrogenesis, Type II |
2 |
| Acrania / Multiple Congenital Anomalies |
1 |
| Addison's Disease |
1 |
| ADHD |
7 |
| Adrenomyeloneuropathy |
1 |
| Agenesis of Corpus Callosum |
3 |
| Aicardi-Goutieres Syndrome |
1 |
| Aicardi-Goutieres Syndrome* |
1 |
| ALD |
8 |
| ALD / Alzheimer's Disease |
1 |
| ALD / AMN |
1 |
| ALD, Cerebral |
1 |
| ALD, X-linked, Adult Cerebral |
3 |
| ALD, X-linked, AMN, Cerebral |
15 |
| ALD, X-linked, AMN, Cerebral Status Unknown |
1 |
| ALD, X-linked, AMN, Pure |
1 |
| ALD, X-linked, Carrier |
5 |
| ALD, X-linked, Carrier, AMN, Pure |
1 |
| ALD, X-linked, Childhood Cerebral |
11 |
| Alexander Disease |
12 |
| Alpers Syndrome |
3 |
| Alpers Syndrome* |
1 |
| ALS |
1 |
| Alternating Hemiplegia of Childhood |
1 |
| Alzheimer's / Adrenoleukodystrophy, Carrier |
1 |
| Alzheimer's Disease |
65 |
| Alzheimer's Disease / Cerebral Vascular Disease |
2 |
| Alzheimer's Disease / Inclusion Body Myositis |
1 |
| Alzheimer's Disease / Parkinson's Disease |
2 |
| Alzheimer's Disease, Early Onset |
1 |
| Alzheimer's Disease, Lewy Body Variant |
5 |
| Alzheimer's Disease, Lewy Body Variant / Schizoph |
1 |
| Alzheimer's Disease-like, Mild |
1 |
| Amniotic Band Syndrome |
2 |
| Amyotrophic Lateral Sclerosis |
53 |
| Amyotrophic Lateral Sclerosis / Progressive Supran |
1 |
| Anencephaly |
21 |
| Angelman Syndrome |
5 |
| Anoxic-Ischemic Injury |
1 |
| Aprosencephaly |
1 |
| Arnold Chiari Malformation |
2 |
| Arthrogryposis |
5 |
| Arthrogryposis / Periventricular Leukomalacia |
1 |
| ASD / Autism |
42 |
| ASD / Autism / ALS |
1 |
| ASD / Autism / Epilepsy / IDIC 15* |
1 |
| ASD / Autism / Parkinson's Disease |
1 |
| ASD / Autism Related, PDD |
1 |
| ASD / Autism Sibling, Social Anxiety Disorder |
1 |
| ASD / Autism, Suspected |
8 |
| ASD / Autism, Suspected / Mental Retardation |
1 |
| ASD / Autism, Unaffected Relative / Glioblastoma M |
1 |
| ASD /Autism, Unaffected Relative |
2 |
| ASD, PDD-NOS / Fragile X |
1 |
| ASD/ Asperger's Syndrome |
4 |
| Asphyxia, perinatal |
1 |
| Astrocytoma |
1 |
| Astrocytoma, Grade III |
1 |
| Ataxia |
1 |
| Ataxia Telangiectasia |
12 |
| Ataxia, Spinocerebellar |
2 |
| Atrophy, Brain |
4 |
| Atrophy, Brain / Mental Retardation |
1 |
| AV Canal Defect / Omphalocele |
1 |
| Barth's Syndrome |
1 |
| Binswanger's Syndrome |
1 |
| Binswanger's Syndrome / Alzheimer's, Lewy Body Var |
1 |
| Bipolar Disorder |
3 |
| Blue Rubber Bleb Nevus Syndrome |
1 |
| Brain Edema, Traumatic |
1 |
| Brain Mets / Spine Mets |
1 |
| Branchio-Oto-Renal Syndrome |
1 |
| CADASIL |
2 |
| Cancer, CNS |
1 |
| Carbohydrate Glycoprotein Deficiency Syndrome |
1 |
| Cardiomyopathy, Hypertrophic |
1 |
| Cardiomyopathy, Ischemic |
1 |
| Carnitine Deficiency |
1 |
| Caudal Regression Syndrome |
4 |
| Caudal Regression Syndrome / Maternal Diabetes |
1 |
| Cavernous Hemangioma |
1 |
| Cerebellar Degeneration |
2 |
| Cerebral Edema of Unknown Etiology |
1 |
| Cerebral Occular Facial Syndrome |
2 |
| Cerebral Palsy |
14 |
| Cerebral Palsy / Hydrocephalus |
1 |
| Cerebral Palsy / Mental Retardation / Epilepsy |
1 |
| Cerebral Palsy / Parkinson's Disease |
1 |
| Cerebral Palsy / Seizure Disorder |
1 |
| Cerebral Vascular Disease |
1 |
| Charcot-Marie-Tooth Disease |
2 |
| CHARGE Syndrome |
1 |
| Chondrodysplasia Punctata |
1 |
| Choroid Plexus Angioma |
1 |
| Chromosomal Disorder, 45, X |
6 |
| Chromosomal Disorder, 45X/46XY |
1 |
| Chromosomal Disorder, 46, XX, 5q+ |
1 |
| Chromosomal Disorder, 4p-Syndrome |
1 |
| Chromosomal Disorder, Balanced Translocation 6,11 |
1 |
| Chromosomal Disorder, Chromosome 21 Rearrangement |
1 |
| Chromosomal Disorder, Deletion, Chromosome 11 |
1 |
| Chromosomal Disorder, Deletion, Chromosome 12 |
1 |
| Chromosomal Disorder, Inversion Duplication 8 |
1 |
| Chromosomal Disorder, Klinefelter's Synd (47,XXY) |
2 |
| Chromosomal Disorder, Other |
4 |
| Chromosomal Disorder, Ring Chromosome 21, Mosaic |
1 |
| Chromosomal Disorder, Ring Chromosome 6 |
1 |
| Chromosomal Disorder, Ring Chromosome 9, Mosaic |
1 |
| Chromosomal Disorder, Translocation de novo 4;12 |
1 |
| Chromosomal Disorder, Triple X |
1 |
| Chromosomal Disorder, Triploidy |
4 |
| Chromosomal Disorder, Triploidy (69 XXX) |
1 |
| Chromosomal Disorder, Trisomy 1 |
1 |
| Chromosomal Disorder, Trisomy 7 |
1 |
| Chromosomal Disorder, Trisomy 9 |
1 |
| Chromosomal Disorder, Trisomy 9 / Monosomy 22 |
1 |
| Chromosomal Disorder, Trisomy 13 |
19 |
| Chromosomal Disorder, Trisomy 13-15 |
1 |
| Chromosomal Disorder, Trisomy 15 |
1 |
| Chromosomal Disorder, Trisomy 15, Mosaic |
1 |
| Chromosomal Disorder, Trisomy 16 |
2 |
| Chromosomal Disorder, Trisomy 16, Mosaic |
1 |
| Chromosomal Disorder, Trisomy 17 |
1 |
| Chromosomal Disorder, Trisomy 18 |
30 |
| Chromosomal Disorder, Trisomy 18, Mosaic |
1 |
| Chromosomal Disorder, Trisomy 21 |
77 |
| Chromosomal Disorder, Trisomy 21 / Alzheimer's |
8 |
| Chromosomal Disorder, Trisomy 21 / Alzheimer's Dis |
2 |
| Chromosomal Disorder, Trisomy 21, Triple X |
1 |
| Chromosomal Disorder, Trisomy 22 |
2 |
| Chromosomal Disorder, Trisomy X |
1 |
| Chromosomal Disorder, Turner's Syndrome |
3 |
| Chromosomal Disorder, Unbalanced Translocation |
2 |
| Chromosomal Disorder, X X X X Y Syndrome |
1 |
| Chromosonal Translocation |
1 |
| Citrullinemia |
1 |
| Cocaine Abuse, Maternal |
1 |
| Cockayne Syndrome |
10 |
| Coma, Brain Trauma |
1 |
| Congenital Disorder of Glycosylation(CDG) Type 1 * |
2 |
| Congenital Heart Defect |
1 |
| Congenital Heart Defect / Encephalopathy, Anoxic I |
1 |
| Control |
1312 |
| Control (Triplets) |
1 |
| Control (Twins) |
15 |
| Control (Twins) / Maternal Diabetes |
2 |
| Control / Maternal Diabetes |
1 |
| Control / Prematurity |
2 |
| Control* |
1 |
| Cornelia de Lange Syndrome |
2 |
| Corticobasal Ganglionic Degeneration |
8 |
| Creutzfeldt - Jakob Disease |
1 |
| Cystic Fibrosis |
3 |
| Cystic Hygroma |
1 |
| Dandy-Walker Malformation |
5 |
| Dandy-Walker Malformation / Agenesis of Corpus Cal |
2 |
| Dandy-Walker Malformation / Conradi-Huner Syndrome |
1 |
| Dementia |
7 |
| Dementia / Lewy Body Disease |
4 |
| Dementia, Multi-infarct Type |
2 |
| Dementia, NOS |
4 |
| Depression / Bipolar, Suspected |
4 |
| Depression, NOS |
38 |
| Dermatomyositis |
2 |
| Diabetes |
3 |
| Diabetes, Type I / Control |
7 |
| Diaphragmatic Hernia |
3 |
| DiGeorge Syndrome |
1 |
| Down's Syndrome |
1 |
| Dwarfism / Rhizomelic Chondrodysplasia Punctata |
1 |
| Dwarfism, Achondroplastic |
1 |
| Dwarfism, Thanatophoric |
2 |
| Dysautonomia, Familial |
2 |
| Dysmorphology Syndrome |
2 |
| Dysplasia, Focal Cerebellar |
1 |
| Dysplasia, Maturational |
1 |
| Dysplasia, Pontomedullocerebellar |
1 |
| Dystonia |
17 |
| Dystonia / Corticobasal Ganglionic Degeneration |
1 |
| Dystonia, Acquired, Post Traumatic |
1 |
| Dystonia, Adult Onset, Acute / Ataxia |
1 |
| Dystonia, Blepharospasm |
5 |
| Dystonia, Blepharospasm / Alzheimer's Disease |
1 |
| Dystonia, Blepharospasm, Meige Syndrome |
1 |
| Dystonia, Blepharospasm, Tardive Dyskinesia |
1 |
| Dystonia, DYT1 GAG Deletion, Carrier |
4 |
| Dystonia, DYT1 GAG Deletion, Carrier / Cancer |
1 |
| Dystonia, DYT1 GAG Deletion, Generalized |
3 |
| Dystonia, Familial / Dementia / Lewy Body Disease |
1 |
| Dystonia, Generalized |
2 |
| Dystonia, Generalized / Dementia |
1 |
| Dystonia, Generalized, Adult Onset, Progressive |
1 |
| Dystonia, Generalized, Familial |
1 |
| Dystonia, Generalized, Familial, Meige Syndrome |
1 |
| Dystonia, Generalized, Meige Syndrome |
1 |
| Dystonia, Medication Induced |
1 |
| Dystonia, Medication Induced / Schizophrenia |
1 |
| Dystonia, Meige Syndrome |
3 |
| Dystonia, Meige Syndrome / Alzheimer's Disease |
1 |
| Dystonia, Meige Syndrome / Glioblastoma |
1 |
| Dystonia, Meige Syndrome, Focal |
2 |
| Dystonia, Meige Syndrome, Mandibular |
1 |
| Dystonia, Multiple Systems Atrophy |
1 |
| Dystonia, Progressive / Cerebral Palsy |
1 |
| Dystonia, Spasmodic Dysphonia |
3 |
| Dystonia, Spasmodic Dysphonia / Familial Tremor |
1 |
| Dystonia, Spasmodic Torticollis |
13 |
| Dystonia, Spasmodic Torticollis / Alzheimer's Dise |
2 |
| Dystonia, Spasmodic Torticollis / Depression |
1 |
| Dystonia, Suspected |
2 |
| Dystonia, Unaffected Relative |
5 |
| Dystonia, Unaffected Relative / Alzheimer's Diseas |
1 |
| Encephalitis, (Japanese B) |
1 |
| Encephalitis, Viral |
1 |
| Encephalocele |
4 |
| Encephalocele, Orbital |
1 |
| Encephalopathy, Anoxic Ischemic |
22 |
| Encephalopathy, Anoxic Ischemic / Cerebral Palsy |
1 |
| Encephalopathy, Anoxic Ischemic / Congenital Heart |
1 |
| Encephalopathy, Anoxic Ischemic / Dandy-Walker Mal |
1 |
| Encephalopathy, Anoxic Ischemic / Hydrocephalus |
1 |
| Encephalopathy, Anoxic Ischemic / Maternal Hyperth |
1 |
| Encephalopathy, Demyelinating |
3 |
| Encephalopathy, Global Static |
1 |
| Encephalopathy, Metabolic |
1 |
| Encephalopathy, Metabolic with Intractable Seizure |
1 |
| Encephalopathy, Metabolic, NOS |
1 |
| Encephalopathy, Mitochondrial, NOS |
1 |
| Encephalopathy, Unknown Etiology |
2 |
| Endocardial Cushion Defect |
1 |
| Endocarditis, Acute |
1 |
| Endocarial Fibroelastosis |
1 |
| Ependymoma |
1 |
| Epidermolysis Bullosa |
1 |
| Epilepsy |
50 |
| Epilepsy / Mental Retardation |
1 |
| Epilepsy / Ohtahara's Syndrome |
1 |
| Epilepsy / Parkinson's Disease |
1 |
| Epilepsy / Polymicrogyria |
1 |
| Epilepsy* |
1 |
| Epilepsy, Lennox-Gastaut Syndrome |
3 |
| Epilepsy, Myoclonic |
3 |
| Epilepsy, Severe Myoclonic |
1 |
| Ethylmalonic Encephalopathy |
1 |
| Fabry's Disease |
1 |
| Failure to Thrive |
1 |
| Fetal Alcohol Syndrome |
1 |
| Fibrosarcoma, Congenital |
1 |
| Fragile X |
10 |
| Fragile X* |
3 |
| Fragile X, Carrier |
4 |
| Fragile X, Carrier / Parkinson's Disease |
1 |
| Fragile X, Carrier* |
1 |
| Fragile X, Suspected |
3 |
| Fragile X, Variant |
1 |
| Freeman Sheldon Syndrome |
1 |
| Friedreich's Ataxia |
3 |
| Friedreich's Ataxia, SCA7 |
1 |
| Frontotemporal Lobar Degeneration |
1 |
| Fryns Syndrome |
1 |
| Gangliosidosis, GM1 |
2 |
| Gaucher's Disease |
2 |
| Glioblastoma |
5 |
| Glioblastoma Multiforme |
2 |
| Glioblastoma Multiforme (WHO grade IV) |
11 |
| Glioblastoma Multiforme (WHO grade IV) / Schizophr |
1 |
| Glycogen Storage Disease, NOS |
1 |
| Glycogenosis, Type IX |
1 |
| Gynecomastia* |
1 |
| Hallerman Streiff Syndrome |
1 |
| Hemangioma,* periorbital |
1 |
| Hematopoietic Derangement |
1 |
| Hemochromatosis, Neonatal |
1 |
| Hepatic Encephalopathy (Alzheimer Type II Astr..) |
4 |
| Hereditary Neurodegenerative Disorder, NOS |
1 |
| Hippocampal Sclerosis |
1 |
| Hirschsprung's Disease |
2 |
| Holoprosencephaly |
17 |
| Holoprosencephaly / Chromosomal Disorder, Trisomy |
1 |
| Holoprosencephaly, Alobar |
1 |
| Homocystinuria |
1 |
| Huntington's Disease |
14 |
| Huntington's Disease, Suspected |
1 |
| Hydranencephaly |
1 |
| Hydrocephalus |
13 |
| Hydrocephalus / Cerebral Palsy |
1 |
| Hydrocephalus / Mental Retardation |
2 |
| Hydrocephalus, Etiology Undetermined |
1 |
| Hydrocephalus, X-linked |
1 |
| Hydrocephalus, X-linked Carrier* |
1 |
| Hydrops Fetalis |
7 |
| Hydrops Fetalis, Non-immune |
1 |
| Hyperglycinemia |
1 |
| Hyperplasia, Right Ventricle |
1 |
| Hypoplastic Left Heart Syndrome |
1 |
| Hypothyroidism, Maternal |
1 |
| Hypotonia |
1 |
| Hypotonia, Congenital |
1 |
| Ichythiosis |
1 |
| Inclusion Body Myositis |
7 |
| Inclusion Body Myositis / Dementia, frontotemporal |
1 |
| Infarcts, Cystic |
1 |
| Intestinal Lymphangectasia (Opiz BBB Syndrome) |
1 |
| Intraventricular Hemorrhage |
5 |
| Intraventricular Hemorrhage / Periventricular Leuk |
1 |
| Intraventricular Hemorrhage / Prematurity |
1 |
| JOB Syndrome |
1 |
| Joseph's Disease |
2 |
| Joubert Syndrome |
1 |
| Kawasaki's Disease |
1 |
| Klinefelter's syndrome |
1 |
| Klippel-Trenaunay Syndrome* |
1 |
| Krabbe's Disease |
4 |
| Kufs Disease |
1 |
| Lactic Acidosis |
1 |
| Lawrence Moon Bardet Biedl Syndrome |
1 |
| Leigh's Disease |
3 |
| Leukemia, Acute Non-Lymphocytic |
1 |
| Leukodystrophy |
9 |
| Leukodystrophy, Metachromatic |
9 |
| Leukodystrophy, Orthochromic, Pigmentary Type |
1 |
| Leukodystrophy, Radiation Induced |
1 |
| Leukodystrophy, Sudanophilic |
1 |
| Leukoencephalopathy |
2 |
| Leukoencephalopathy / Global |
1 |
| Leukoencephalopathy / Nonketotic Hyperglycinemia |
1 |
| Lewy Body Disease |
4 |
| Limb-body Wall Complex |
2 |
| Lissencephaly |
4 |
| Loeys-Dietz Syndrome |
1 |
| Long chain fatty acid oxidation defect |
1 |
| Lowe Syndrome |
6 |
| Lowe Syndrome* |
2 |
| Lymphoproliferative Disorder, Post-transplant |
1 |
| Macrocephaly |
1 |
| Malformation, Brainstem |
1 |
| Malformation, Brainstem and Cerebellum |
1 |
| Meckel-Gruber Syndrome |
1 |
| Meckel-Gruber Syndrome / Holoprosencephaly |
1 |
| Medium Chain Acyl-CoA Dehydrogenase Deficiency |
1 |
| Medulloblastoma |
1 |
| Meningioma |
1 |
| Meningioma* |
1 |
| Meningoencephalitis, Chronic |
1 |
| Meningomyelocele |
3 |
| Mental Retardation |
4 |
| Mental Retardation / Fahr's Disease |
1 |
| Mental Retardation / Seizure Disorder |
4 |
| Mental Retardation, NOS |
12 |
| Metabolic Disorder |
6 |
| Metabolic Disorder (complex) |
1 |
| Microcephaly |
4 |
| Microcephaly / Epilepsy / Alzheimer's Disease Type |
1 |
| Mitochondrial Defect |
1 |
| Mitochondrial Disorder |
4 |
| Motor Neuron Disease, NOS |
1 |
| Movement Disorder, Unknown |
1 |
| Moya Moya Disease / Ammon's Horn Sclerosis |
1 |
| Mucolipidosis Type II |
1 |
| Mucopolysaccharidosis |
1 |
| Mucopolysaccharidosis, Hurler's Syndrome |
2 |
| Mucopolysaccharidosis, Sanfilippo Syndrome |
1 |
| Multiple Congenital Anomalies |
14 |
| Multiple Congenital Anomalies (Normal Brain) |
1 |
| Multiple Congenital Anomalies (Twin) |
1 |
| Multiple Congential Anomalies |
1 |
| Multiple Sclerosis |
21 |
| Multiple Sclerosis / Alzheimer's Disease |
2 |
| Multiple Sclerosis* |
1 |
| Multiple Sulfatase Deficiency |
1 |
| Multiple Systems Atrophy |
9 |
| Muscular Dystrophy |
8 |
| Muscular Dystrophy / Diabetes |
1 |
| Muscular Dystrophy, Becker's Type |
1 |
| Muscular Dystrophy, Duchenne |
4 |
| Muscular Dystrophy, Facioscapulohumeral |
5 |
| Mutliple Congenital Anomalies |
1 |
| Myasthenia Gravis |
1 |
| Myofibromatosis, Infantile |
1 |
| Myopathy, Congenital |
1 |
| Myotonic Dystrophy |
5 |
| NBIA Disorder |
8 |
| NBIA Disorder / Neuraxonal Dystrophy |
1 |
| NBIA Disorder, Adult Presentation |
2 |
| Nephrosis, Congenital, Suspected |
2 |
| Nephrotic Syndrome, Congenital |
1 |
| Neural Tube Defect |
2 |
| Neuraxonal Dystrophy |
2 |
| Neuroaxonal Dystrophy, Infantile |
2 |
| Neuroblastoma tumor |
1 |
| Neurodegenerative Disorder |
2 |
| Neurodegenerative Disorder, NOS |
3 |
| Neurodevelopmental Disorder, NOS |
1 |
| Neurofibromatosis / Parkinson's Disease |
1 |
| Neurofibromatosis* |
7 |
| Neurofibromatosis, Type I |
6 |
| Neurofibromatosis, Type I and Glioblastoma |
2 |
| Neurofibromatosis, Type I* |
3 |
| Neurofibromatosis, Type II |
7 |
| Neurofibromatosis, Type Unknown |
2 |
| Neurological Disorder, Undiagnosed |
1 |
| Neuromuscular Disorder Undiagnosed |
1 |
| Neuronal Ceroid Lipofuscinosis |
15 |
| Niemann-Pick Disease, Type C |
11 |
| Niemann-Pick Disease, Type C* |
1 |
| Nonketotic Hyperglycinemia |
2 |
| Noonan's Syndrome |
2 |
| Ogilvies Syndrome |
1 |
| Oligohydramnios |
5 |
| Olivomedullocerebellar Dysplasia |
1 |
| Olivopontocerebellar Degeneration |
3 |
| Ornithine Transcarbamylase Deficiency |
2 |
| Orthotopic Heart Transplant |
1 |
| Osteogenesis Imperfecta |
2 |
| Osteomyelitis |
1 |
| Osteopetrosis |
1 |
| Paget Disease, R/O |
1 |
| Pallister-Killian Syndrome |
1 |
| Parkinson's Disease |
21 |
| Parkinson's Disease / ALD, Carrier |
1 |
| Parkinson's Disease / Alzheimer's Disease |
1 |
| Parkinson's Disease / Dementia |
1 |
| Parkinson's Disease / Dementia, Multi-Infarct |
1 |
| Parkinson's Disease / Diabetes |
1 |
| Parkinson's Disease / Lewy Body Disease |
2 |
| Parkinson's Disease, Juvenile Progressive |
1 |
| Pelizaeus-Merzblacher Disease |
1 |
| Pending |
11 |
| Pentalogy of Cantrell |
5 |
| Periventricular Leukomalacia, Organizing / Congeni |
1 |
| Peroxisomal D-Bifunctional Protein Deficiency |
1 |
| Peroxisomal Disorder |
2 |
| Phenylketonuria |
1 |
| Pick's Disease |
2 |
| PKAN |
1 |
| PKU |
1 |
| Polycystic Kidney Disease |
1 |
| Polyhydramnios / Twin to Twin Transfusion Syndrome |
1 |
| Polymicrogyria |
2 |
| Polymicrogyria / Probable Zellweger's Syndrome |
1 |
| Polymicrogyria, Focal |
2 |
| Polymicropolygyria, Heterotopias / Periventricular |
1 |
| Polymyositis |
1 |
| Polymyositis / Dermatomyositis |
1 |
| Pompe Disease |
2 |
| Porencephaly |
2 |
| Posterior Urethral Valve Obstruction |
2 |
| Potter's Syndrome |
4 |
| Potter's Syndrome (Twin) |
1 |
| Prader-Willi Syndrome |
21 |
| Prader-Willi Syndrome* |
1 |
| Prematurity |
6 |
| Prematurity, Extreme |
5 |
| Progressive Supranuclear Palsy |
4 |
| Propionic Acidemia |
1 |
| Proteus Syndrome |
2 |
| Prune Belly Syndrome |
1 |
| Psychiatric Disorder / Diabetes |
1 |
| Pulmonary Fibrosis |
1 |
| Pyruvate Carboxylase Deficiency |
1 |
| Pyruvate Dehydrogenase Deficiency |
1 |
| Renal Agenesis |
3 |
| Renal Aplasia |
1 |
| Respiratory Distress Syndrome |
1 |
| Respiratory Distress Syndrome / Intraventricular H |
1 |
| Retinoblastoma |
1 |
| Rett Syndrome |
7 |
| Rett Syndrome, Mutational Analysis Negative |
2 |
| Rett Syndrome, Uncharacterized Sibling |
1 |
| Sandhoff Disease |
2 |
| Sanfilippo Syndrome, Type D |
2 |
| Sanfilippo Syndrome, Type III |
3 |
| Sarcoidosis, Pulmonary |
2 |
| Schizencephaly |
1 |
| Schizo-Affective Disorder |
1 |
| Schizophrenia |
14 |
| Schizophrenia / Epilepsy |
1 |
| Scleroderma |
1 |
| Scoliosis |
1 |
| Short Chain Acyl CoA Deficiency |
1 |
| Shy-Drager Syndrome |
3 |
| Sickle Cell Disease |
8 |
| SIDS, Co-Sleeping-No |
73 |
| SIDS, Co-Sleeping-Unknown |
57 |
| SIDS, Co-Sleeping-Yes |
34 |
| Sirenomelia / Caudal Regression Syndrome |
3 |
| Skeletal Dysplasia |
2 |
| Smith-Lemli-Opitz Syndrome |
1 |
| Spina Bifida |
19 |
| Spina Bifida, Arnold-Chiari Malformation II |
2 |
| Spinal Cord Trauma |
1 |
| Spinal Muscular Atrophy |
4 |
| Spinal Muscular Atrophy, Type 1 |
9 |
| Spinal Muscular Atrophy, Type 1* |
1 |
| Spinocerebellar Ataxia, Type 1 |
1 |
| Spinocerebellar Ataxia, Type 2 |
1 |
| Spinocerebellar Degeneration, Type VII |
1 |
| Status Marmoratus |
1 |
| Stickler Syndrome |
1 |
| Stroke |
2 |
| Sturge-Weber Syndrome |
2 |
| Sturge-Weber Syndrome / Alzheimer's Disease |
1 |
| Sturge-Weber Syndrome / Epilepsy |
1 |
| Sturge-Weber Syndrome* |
56 |
| Sturge-Weber Syndrome* / ASD / Autism, Suspected |
1 |
| Sturge-Weber Syndrome, Bilateral |
2 |
| Sturge-Weber Syndrome, Suspected |
1 |
| Subarachnoid Hemorrhage |
1 |
| Sudden Infant Death Syndrome |
9 |
| Sudden Unexplained Death |
8 |
| Systemic Lupus Erythematosus |
1 |
| Tay-Sachs Disease |
5 |
| Tay-Sachs Disease, Suspected |
1 |
| Tourette's Syndrome |
1 |
| Toxic / Metabolic (i.e. drug related) |
1 |
| Tracheal Atresia |
1 |
| Traumatic Brain Injury |
10 |
| Tuberous Sclerosis |
38 |
| Tuberous Sclerosis / Epilepsy |
1 |
| Tuberous Sclerosis / LAM |
1 |
| Tuberous Sclerosis* |
120 |
| Tuberous Sclerosis* / Epilepsy* |
1 |
| Vanishing White Matter Disease |
6 |
| Vascular Malformations, Multiple |
1 |
| Vater / Vacteral Syndrome |
1 |
| Von Hippel-Lindau Disease |
11 |
| Von Hippel-Lindau Disease* |
62 |
| Von Hippel-Lindau Disease, Suspected* |
1 |
| Walker-Warburg Syndrome |
1 |
| Williams Syndrome |
3 |
| Wolf-Parkinson-White Syndrome |
1 |
| Xeroderma Pigmentosum |
3 |
| X-Linked Encephalomyopathy |
1 |
| X-Linked Encephalomyopathy / Seizure Disorder |
1 |
| X-Linked Mental Retardation / Seizure Disorder |
1 |
| X-linked Myopathy |
1 |
| Zellweger Spectrum (neonatal ALD) |
2 |
| Zellweger Spectrum (neonatal ALD), PEX1 Defect |
2 |
| Zellweger, Related, (neonatal ALD) |
2 |
| Zellweger's Syndrome |
6 |
| Zellweger's Syndrome, Psuedo |
1 |
