UNIVERSITY OF MARYLAND
 School of Medicine
Brain and Tissue Bank
      for Developmental Disorders

Number of Cases for Each Disorder
with Links to Case Summaries

DISORDER TOTAL
Achondrogenesis, Type II 2
Achondroplasia Dwarfism 1
Acrania / Multiple Congenital Anomalies 1
Addison's Disease 1
Adrenomyeloneuropathy 1
Agenesis of Corpus Callosum 3
Aicardi-Goutieres Syndrome 1
Aicardi-Goutieres Syndrome* 1
ALD 5
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 9
Alpers Disease 1
Alpers-Huttenlocher Syndrome 1
Alternating Hemiplegia of Childhood 1
Alzheimer's / Adrenoleukodystrophy, Carrier 1
Alzheimer's Disease 56
Alzheimer's Disease / Cerebral Vascular Disease 2
Alzheimer's Disease / Inclusion Body Myositis 1
Alzheimer's Disease / Lewy Body Variant / Schizoph 1
Alzheimer's Disease / Parkinson's Disease 2
Alzheimer's Disease, Early Onset 1
Alzheimer's Disease, Lewy Body Variant 2
Alzheimer's Disease-like, Mild 1
Amniotic Band Syndrome 2
Amyotrophic Lateral Sclerosis 49
Amyotrophic Lateral Sclerosis / Progressive Supranuclear Palsy 1
Anencephaly 21
Angelman Syndrome 4
Anoxic-Ischemic Injury 1
Arnold Chiari Malformation 2
Arnold Chiari Malformation / Seizure Disorder 1
Arthrogryposis 5
Arthrogryposis / Periventricular Leukomalacia 1
Asperger's Syndrome 2
Astrocytoma Grade III 1
Ataxia 1
Ataxia Telangiectasia 10
Ataxia, Spinocerebellar 1
Atrophy, Brain 4
Atrophy, Brain / Mental Retardation 1
Attention Deficit Disorder 4
Autism 24
Autism / ALS 1
Autism / Epilepsy / IDIC 15* 1
Autism / Mental Retardation 1
Autism / Seizure Disorder 3
Autism Related, Pervasive Developmental Disorder 1
Autism Suspected / Mental Retardation 1
Autism, Suspected 5
Autism, Unaffected Relative 2
Autism, Unaffected Relative & Glioblastoma Multifo 1
AV Canal Defect and Omphalocele 1
Barth's Syndrome 1
Binswanger Syndrome / Alzheimer's, Lewy Body Varia 1
Binswanger's Syndrome 1
Birth Defects 1
Blue rubber bleb nevus syndrome 1
Body-Wall Complex 2
Brain Edema, Traumatic 1
Brain Mets / Spine Mets 1
Branchio-Oto-Renal Syndrome 1
CADASIL 2
Carbohydrate Glycoprotein Deficiency Syndrome 1
Cardia Fibroelastosis 1
Cardiomyopathy, Hypertrophic 1
Carnitine Deficiency 1
Caudal Regression Syndrome 4
Caudal Regression Syndrome / Maternal Diabetes 1
Cavernous Hemangioma 1
Cerebellar Degeneration 1
Cerebral Edema of Unknown Etiology 1
Cerebral Occular Facial Syndrome 2
Cerebral Palsy 10
Cerebral Palsy / Hydrocephalus 1
Cerebral Palsy / Mental Retardation / Epilepsy 1
Cerebral Palsy / Parkinson's Disease 1
Cerebral Palsy / Seizure Disorder 1
Cerebrovascular Disease 1
Charcot-Marie-Tooth Syndrome 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 3
Chromosomal Disorder, Triploidy (69 XXX) 1
Chromosomal Disorder, Trisomy 1 1
Chromosomal Disorder, Trisomy 7 1
Chromosomal Disorder, Trisomy 13 17
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 27
Chromosomal Disorder, Trisomy 18, Mosaic 1
Chromosomal Disorder, Trisomy 21 69
Chromosomal Disorder, Trisomy 21 / Alzheimer's 5
Chromosomal Disorder, Trisomy 21 / Alzheimer's Disease 1
Chromosomal Disorder, Trisomy 21 / Alzheimer's Disease / Seizure Disorder 1
Chromosomal Disorder, Trisomy 21, Triple X 1
Chromosomal Disorder, Trisomy 22 2
Chromosomal Disorder, Trisomy 9 1
Chromosomal Disorder, Trisomy 9 / Monosomy 22 1
Chromosomal Disorder, Turner's Syndrome 3
Chromosomal Disorder, Unbalanced Translocation 2
Chromosomal Disorder, X X X X Y Syndrome 1
Chromosomal Disorder,Trisomy 21 1
Chromosome Disorder, Trisomy X 1
Chronic Meningoencephalitis 1
Citrullinemia 1
CNS - Cancer 1
Cockayne Syndrome 9
Cogenital Malformations 1
Coma, Brain Trauma 1
Congenital Abnormalilties (Normal Brain) 1
Congenital Fibrosarcoma 1
Congenital Heart Defect 1
Congenital Heart Defect / Encephalopathy, Anoxic Ischemic 1
Congenital Hypotonia 1
Congenital Nephrosis, Suspected 2
Congenital Nephrotic Syndrome 1
Control 1105
Control (Triplets) 1
Control (Twins) 14
Control (Twins) / Maternal Diabetes 2
Control / Maternal Diabetes 1
Control / Prematurity 2
Control* 1
COPD 1
Cornelia de Lange Syndrome 2
Cortical Basal Ganglia Degeneration 4
Cystic Fibrosis 3
Cystic Hygroma 1
Dandy-Walker Malf. / Conradi-Huner. Syn., X-Linked 1
Dandy-Walker Malformation 5
Dandy-Walker Malformation / Agenesis of Corpus Callosum / Hydrocephalus 2
Dementia 6
Dementia / Lewy Body Disease 4
Dementia, Multi-infarct Type 2
Dementia, NOS 4
Depression 12
Depression / Bipolar, suspected 2
Depression, NOS 22
Dermatomyositis 2
Diabetes 2
Diabetes, Type I / Control 6
Diaphragmatic Hernia 3
DiGeorge Syndrome 1
Dysautonomia, Familial 2
Dysmorphology Syndrome 2
Dysplasia, Focal Cerebellar 1
Dystonia 13
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 3
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 12
Dystonia, Spasmodic Torticollis / Alzheimer 2
Dystonia, Suspected 2
Dystonia, Unaffected Relative 5
Dystonia, Unaffected Relative / Alzheimer 1
Eisenmenger's Syndrome 1
Encephalitis (Japanese B) 1
Encephalitis, Viral 1
Encephalocele 4
Encephalopathy, Anoxic Ischemic 21
Encephalopathy, Anoxic Ischemic / Cerebral Palsy 1
Encephalopathy, Anoxic Ischemic / Congenital Heart Defect 1
Encephalopathy, Anoxic Ischemic / Dandy-Walker Malformation 1
Encephalopathy, Anoxic Ischemic / Hydrocephalus 1
Encephalopathy, Anoxic Ischemic / Maternal Hyperthyroidism 1
Encephalopathy, Demyelinating 3
Encephalopathy, Ischemic 1
Encephalopathy, Unknown Etiology 2
Endocardial Cushion Defect 1
Ependymoma 1
Epidermolysis Bullosa 1
Epilepsy 1
Epilepsy, Myoclonic 2
Extreme Immaturity 1
Extreme prematurity 3
Fabry's Disease 1
Facioscapulohumeral Muscular Dystrophy 3
Facioscapulohumeral Muscular Dystrophy* 1
Failure to Thrive 1
Fragile X 11
Fragile X* 2
Fragile X, Carrier 3
Fragile X, Carrier / Parkinson's Disease 1
Fragile X, Carrier* 1
Fragile X, suspected 2
Freeman Sheldon Syndrome 1
Friedreich's Ataxia 3
Friedreich's Ataxia, SCA7 1
Frontotemporal lobar degeneration 1
Fryns Syndrome 1
Gaucher Disease 2
Glioblastoma 1
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 Strieff Syndrome 1
Hematopoietic Derangment 1
Hemochromatosis, Neonatal 1
Hepactic Encephalopathy (Alzheimer Type II Astrocytosis) 3
Hepatic Encephalopathy (Alzheimer Type II Astr..) 1
Hereditary Neurodegenerative Disorder, NOS 1
Hippocampal Sclerosis 2
Hirschsprung's Disease 2
Holoprosencephaly 12
Holoprosencephaly / Chromosomal Disorder, Tris. 13 1
Homocystinuria 1
Huntington's Disease 9
Huntington's Disease, Suspected 1
Hyaline Membrance Disease 1
Hyaline Membrane Disease / Intraventricular Hemorrhage 1
Hydrocephalus 12
Hydrocephalus / Cerebral Palsy 1
Hydrocephalus / Mental Retardation 2
Hydrocephalus, Etiology Undetermined 1
Hydrocephalus, X-linked 1
Hydrocephalus, X-linked Carrier* 1
Hydrops Fetalis 7
Hyperplasia, Right Ventricle 1
Hypoplastic Left Heart Syndrome 1
Inclusion Body Myositis 6
Infantile Neuroaxonal Dystrophy 1
Infarcts, Cystic 1
Intestinal Lymphangectasia (Opiz BBB Syndrome) 1
Intraventricular Hemorrhage 7
Intraventricular Hemorrhage / Periventricular Leukomalacia / Asplenia Syndrome 1
Intraventricular Hemorrhage / Prematurity 1
Joseph's Disease 2
Joubert Syndrome 1
Kawasaki's Disease 1
Kippel-Trenaunay Syndrome* 1
Krabbe's Disease 3
Lactic Acidosis 1
Lawrence Moon Bardet Biedle Syndrome 1
Leigh's Disease 2
Lennox-Gastaut Syndrome 3
Leukemia, Acute Non-Lymphocytic 1
Leukodystrophy 7
Leukodystrophy, Metachromatic 6
Leukodystrophy, Orthochromic, Pigmentary Type 1
Leukodystrophy, Radiation Induced 1
Leukodystrophy, Sudanophilic 1
Leukoencephalopathy 3
Leukoencephalopathy / Nonketotic Hyperglycinemia 1
Lewy Body Disease 4
Lissencephaly 4
Long chain fatty acid oxidation defect 1
Lowe Syndrome 5
Lowe Syndrome* 1
Macrocephaly 1
Malformation of the Brainstem 1
Malformation of the Brainstem and Cerebellum 1
Manic Depression 1
Maternal Cocaine Abuse 1
Maternal Hypothyroidism 1
Meckel-Gruber Syndrome / Holoprosencephaly 1
Meckle-Gruber Syndrome 1
Medium Chain Acyl-CoA Dehydrogenase Deficiency 1
Meningioma* 1
Meningomyelocele 1
Mental Retardation 4
Mental Retardation / Fahr's Disease 1
Mental Retardation / Seizure Disorder 4
Mental Retardation, NOS 12
Metabolic Disorder 3
Metabolic Disorder (complex) 1
Metabolic Encephalopathy 1
Metabolic Encephalopathy with Intractable Seizures 1
Metabolic Encephalopathy, NOS 1
Microcephaly 2
Microcephaly / Seizure Disorder / Alzheimer Type II Astrocytosis 1
Microencephaly 1
Microgyria, Focal 2
Micropolygria, Hetertopias / Periventricular Leukomalacia 1
Mitochondrial Defect 1
Mitochondrial Disorder 2
Motor Neuron Disease, NOS 1
Movement Disorder, Unknown 1
Moya Moya Disease / Ammon's Horn Sclerosis 1
Mucopolysaccharidosis 1
Mucopolysaccharidosis, Hurler's Syndrome 3
Mucopolysaccharidosis, Sanfilippo Syndrome 1
Multi-organ Transplant 1
Multiple Anomalies 11
Multiple Anomalies (Twin) 1
Multiple Congenital Anomalies 3
Multiple Sclerosis 17
Multiple Sclerosis / Alzheimer's Disease 1
Multiple Sclerosis* 1
Multiple Sulfatase Deficiency 1
Multiple Systems Atrophy 7
Multiple Vascular Malformations 1
Muscular Dystrophy 7
Muscular Dystrophy / Diabetes 1
Muscular Dystrophy, Becker's Type 1
Muscular Dystrophy, Duchenne 4
Mutliple Anomalies 1
Myasthenia Gravis 1
Myelomeningocele 1
Myofibromatosis, Infantile 1
Myotonic Dystrophy 3
NBIA Disorder 7
NBIA Disorder / Neuraxonal Dystrophy 1
NBIA Disorder, Adult Presentation 2
Neural Tube Defect 1
Neuraxonal Dystrophy 2
Neurodegenerative Disorder 1
Neurodegenerative Disorder, NOS 3
Neurodevelopmental disorder, NOS 1
Neurofibromatis, Type I 1
Neurofibromatosis 1
Neurofibromatosis / Parkinson's Disease 1
Neurofibromatosis* 7
Neurofibromatosis, Type I 6
Neurofibromatosis, Type I and Glioblastoma 2
Neurofibromatosis, Type I* 2
Neurofibromatosis, Type II 6
Neurofibromatosis, Type Unknown 1
Neuromuscular Disorder Undiagnosed 1
Neuronal Ceroid Lipofuscinosis 13
Niemann-Pick Disease, Type C 10
Niemann-Pick Disease, Type C* 1
Non-immune hydrops fetalis 1
Nonketotic Hyperglycinemia 2
Noonan's Syndrome 2
Ogilvies Syndrome 1
Ohtahara's Syndrome 1
Oligohydramnios 5
Olivopontocerebellar Degeneration 3
Orbital Encephalocele 1
Ornithine Transcarbamylase Deficiency 1
Orthotopic Heart Transplant 1
Osteogenesis Imperfecta 2
Osteomyelitis 1
Osteopetrosis 1
Paget Disease, R/O 1
Pallister-Killian Syndrome 1
Parkinson's Disease 16
Parkinson's Disease / ALD, Carrier 1
Parkinson's Disease / Alzheimer's Disease 1
Parkinson's Disease / Dementia, Multi-Infarct 1
Parkinson's Disease / Diabetes 1
Parkinson's Disease / Lewy Body Disease 1
Parkinson's Disease, Juvenile Progressive 1
Pelizaius-Merzbacher Disorder 1
Pentalogy of Cantell 3
Perinatal Asphyxia 1
Periorbital Hemangioma* 1
Periventricular Leukomalacia, Organizing / Congenital Heart Disease 1
Peroxisomal D-Bifunctional Protein Deficiency 1
Peroxisomal Disorder 2
Phenylketonuria 1
Pick's Disease 2
Polycystic Kidney Disease 1
Polyhydramnios / Twin to Twin Transfusion Syndrome 1
Polymicrogyria 2
Polymyositis / Dermatomyositis 1
Pompe Disease 2
Porencephaly 2
Post-Transplant Lymphoproliferative Disorder 1
Posterior Urethral Valve Obstruction 2
Potter's Syndrome 4
Potter's Syndrome (Twin) 1
Prader-Willi Syndrome 15
Prader-Willi Syndrome* 1
Prematurity 6
Progressive Neurodegenerative Disorder 1
Progressive Supranuclear Palsy 4
Propionic Acidemia 1
Prune Belly Syndrome 1
Psychiatric Disorder / Diabetes 1
Pyruvate Carboxylase Deficiency 1
Pyruvate Dehydrogenase Deficiency 1
Renal Agenesis 3
Renal Aplasia 1
Retino Blastoma 1
Rett Syndrome 7
Rett Syndrome, Mutational Analysis Negative 2
Rett Syndrome, Uncharacterized Sibling 1
Rhizomelic Chondrodysplasia Punctata 1
Sandhoff Disease 2
Sanfilippo Syndrome, Type III 3
Sarcoidosis, Pulmonary 2
Schizencephaly 1
Schizo-Affective Disorder 1
Schizophrenia 8
Schizophrenia / Seizure Disorder 1
Scleroderma 1
Scoliosis 1
Seizure Disorder 40
Seizure Disorder / Mental Retardation 1
Seizure Disorder / Parkinson's Disease 1
Seizure Disorder / Polymicrogyria 1
Seizure Disorder* 1
Seizure Disorder, Severe Myoclonic 1
Short Bowel Syndrome with MVT 1
Short Chain Acyl CoA Deficiency 1
Shy-Drager Syndrome 2
Sickle Cell Disease 6
SIDS, Co-Sleeping-No 66
SIDS, Co-Sleeping-Unknown 54
SIDS, Co-Sleeping-Yes 35
Sirenomelia 3
Skeletal Dysplasia 2
Smith-Lemli-Opitz Syndrome 1
Spina Bifida 17
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
Sturge-Weber Syndrome 2
Sturge-Weber Syndrome / Alzheimer's Disease 1
Sturge-Weber Syndrome / Seizure Disorder 1
Sturge-Weber Syndrome* 35
Sturge-Weber Syndrome* / Autism, Suspected* 1
Sturge-Weber Syndrome, Bilateral 2
Sturge-Weber Syndrome, Suspected 1
Subarachnoid Hemorrhage 1
Sudden Unexplained Death 6
Systemic Lupus Erythematosus 1
Tay-Sachs Disease 4
Tay-Sachs Disease, Suspected 1
Thanatophoric Dwarfism 2
Tourettes Syndrome 1
Toxic / Metabolic (i.e. drug related) 1
Tracheal Atresia 1
Traumatic Brain Injury 10
Triploidy 1
Tuberous Sclerosis 31
Tuberous Sclerosis / LAM 1
Tuberous Sclerosis / Seizure Disorder 1
Tuberous Sclerosis* 95
Tuberous Sclerosis* / Epilepsy* 1
Undiagnosed Neurological Disorder 2
Vanishing White Matter Disease 4
Vater / Vacteral Syndrome 1
Von Hippel-Lindau Disease 11
Von Hippel-Lindau Disease* 59
Von Hippel-Lindau Disease, Suspected* 1
Walker-Warburg Syndrome 1