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Tissues Available by Disorder Name

The following information is provided for each individual case: demographics, short case summary, and tissue availability.

Note: most disorders due to chromosomal abnormalities are listed as follows: Chromosomal Disorder, Trisomy 17, etc. The main exception is Trisomy 21 which is listed as “Down Syndrome”.

For access to a database with additional search functions it is necessary to obtain a password by going to the “UMB BTB Portal”. The portal also lists medical records and neuropathology reports that are in compliance with HIPAA regulations.

Achondrogenesis, Type II
Acrania / Multiple Congenital Anomalies
Addison's Disease
ADHD / Grave's Disease / Developmental Delays
Agenesis of Corpus Callosum
Aicardi-Goutieres Syndrome
Aicardi-Goutieres Syndrome*
ALD / Alzheimer's Disease(+)
ALD / AMN(+)
ALD, Cerebral(+)
ALD, X-linked, Adult Cerebral(+)
ALD, X-linked, AMN, Cerebral(+)
ALD, X-linked, AMN, Cerebral Status Unknown(+)
ALD, X-linked, AMN, Pure(+)
ALD, X-linked, Carrier(+)
ALD, X-linked, Carrier, AMN, Pure
ALD, X-linked, Childhood Cerebral(+)
Alexander Disease(+)
Alpers Syndrome(+)
Alpers Syndrome*
Alternating Hemiplegia of Childhood
Alzheimer's / Adrenoleukodystrophy, Carrier
Alzheimer's Disease(+)
Alzheimer's Disease / Cerebral Vascular Disease
Alzheimer's Disease / Inclusion Body Myositis(+)
Alzheimer's Disease / Parkinson's Disease
Alzheimer's Disease, Early Onset(+)
Alzheimer's Disease, Lewy Body Variant(+)
Alzheimer's Disease, Lewy Body Variant / Schizoph
Alzheimer's Disease/ Dementia
Alzheimer's Disease/Down's Syndrome(+)
Alzheimer's Disease-like, Mild
Amniotic Band Syndrome
Amyotrophic Lateral Sclerosis(+)
Amyotrophic Lateral Sclerosis / Carcinoma(+)
Amyotrophic Lateral Sclerosis / Progressive Supran
Amyotrophic Lateral Sclerosis, Familial(+)
Amyotrophic Lateral Sclerosis/Dementia(+)
Angelman Syndrome(+)
Anoxic-Ischemic Injury
Arthrogryposis / Periventricular Leukomalacia
ASD / Asperger's Syndrome(+)
ASD / Asperger's Syndrome, Suspected(+)
ASD / Autism(+)
ASD / Autism / ALS(+)
ASD / Autism / Epilepsy / IDIC 15*
ASD / Autism / Parkinson's Disease(+)
ASD / Autism /Anxiety / Epilepsy(+)
ASD / Autism Related, PDD(+)
ASD / Autism Sibling, Social Anxiety Disorder(+)
ASD / Autism, Suspected(+)
ASD / Autism, Unaffected Relative(+)
ASD / Autism, Unaffected Relative / Glioblastoma
ASD, PDD-NOS / Fragile X
Asphyxia, perinatal
Astrocytoma, Grade III
Ataxia Telangiectasia(+)
Ataxia, Spinocerebellar(+)
Atrophy, Brain
Atrophy, Brain / Intellectual Disability
AV Canal Defect / Omphalocele
Barth's Syndrome
Binswanger's Syndrome
Binswanger's Syndrome / Alzheimer's, Lewy Body Var
Bipolar Disorder(+)
Blue Rubber Bleb Nevus Syndrome
Brain Edema, Traumatic
Branchio-Oto-Renal Syndrome
Cancer, CNS
Cancer, Esphogeal Origin
Carbohydrate Glycoprotein Deficiency Syndrome
Cardiomyopathy, Hypertrophic
Cardiomyopathy, Ischemic
Carnitine Deficiency
Caudal Regression Syndrome
Caudal Regression Syndrome / Maternal Diabetes
Cavernous Angioma
Cavernous Hemangioma(+)
Cerebellar Degeneration(+)
Cerebral Edema of Unknown Etiology
Cerebral Occular Facial Syndrome
Cerebral Palsy(+)
Cerebral Palsy / Epilepsy
Cerebral Palsy / Hydrocephalus
Cerebral Palsy / Intellectual Disab. / Epilepsy
Cerebral Palsy / Parkinson's Disease(+)
Cerebral Palsy/Fetal Alcohol Syndrome(+)
Cerebral Vascular Disease
Charcot-Marie-Tooth Disease
CHARGE Syndrome
Chiari II
Chiari I(+)
Chiari II
Chondrodysplasia Punctata
Choroid Plexus Angioma
Chromosomal Disorder, 45, X
Chromosomal Disorder, 45X/46XY
Chromosomal Disorder, 46, XX, 5q+
Chromosomal Disorder, 4p-Syndrome
Chromosomal Disorder, Balanced Translocation 6,11
Chromosomal Disorder, Chromosome 21 Rearrangement
Chromosomal Disorder, Deletion Chromosome 21(+)
Chromosomal Disorder, Deletion, Chromosome 11
Chromosomal Disorder, Deletion, Chromosome 12
Chromosomal Disorder, Inversion Duplication 8
Chromosomal Disorder, Klinefelter's Synd (47,XXY)
Chromosomal Disorder, Other
Chromosomal Disorder, Ring Chromosome 21, Mosaic
Chromosomal Disorder, Ring Chromosome 6
Chromosomal Disorder, Ring Chromosome 9, Mosaic
Chromosomal Disorder, Translocation de novo 4;12
Chromosomal Disorder, Triple X
Chromosomal Disorder, Triploidy
Chromosomal Disorder, Triploidy (69 XXX)
Chromosomal Disorder, Trisomy 1
Chromosomal Disorder, Trisomy 13(+)
Chromosomal Disorder, Trisomy 7
Chromosomal Disorder, Trisomy 9
Chromosomal Disorder, Trisomy 9 / Monosomy 22
Chromosomal Disorder, Trisomy 13(+)
Chromosomal Disorder, Trisomy 13-15
Chromosomal Disorder, Trisomy 15
Chromosomal Disorder, Trisomy 15, Mosaic
Chromosomal Disorder, Trisomy 16
Chromosomal Disorder, Trisomy 16, Mosaic
Chromosomal Disorder, Trisomy 17
Chromosomal Disorder, Trisomy 18(+)
Chromosomal Disorder, Trisomy 18, Mosaic
Chromosomal Disorder, Trisomy 22
Chromosomal Disorder, Trisomy X
Chromosomal Disorder, Turner's Syndrome
Chromosomal Disorder, Unbalanced Translocation
Chromosomal Disorder, X X X X Y Syndrome
Chromosonal Disord., Transl, ..t (4;11) (q35:q23).
Cocaine Abuse, Maternal
Cockayne Syndrome(+)
Coma, Brain Trauma
Congenital Disorder of Glycosylation(CDG) Type 1 *
Congenital Heart Defect
Congenital Heart Defect / Encephalopathy, Anoxic I
Control (Triplets)
Control (Twins)
Control (Twins) / Maternal Diabetes
Control / Maternal Diabetes
Control / Prematurity
Cornelia de Lange Syndrome
Corticobasal Degeneration(+)
Creutzfeldt - Jakob Disease
Cystic Fibrosis
Cystic Hygroma
Dandy-Walker Malformation
Dandy-Walker Malformation / Agenesis of Corpus Cal
Dandy-Walker Malformation / Conradi-Huner Syndrome
Dementia / Lewy Body Disease
Dementia, Multi-infarct Type(+)
Dementia, NOS(+)
Depression / Bipolar, Suspected(+)
Depression, NOS(+)
Diabetes, Type I
Diaphragmatic Hernia
DiGeorge Syndrome
Down Syndrome(+)
Down Syndrome / Alzheimer's(+)
Down Syndrome, Misdiagnosed(+)
Down Syndrome, Triple X
Dravet Syndrome(+)
Dwarfism / Rhizomelic Chondrodysplasia Punctata
Dwarfism, Achondroplastic(+)
Dwarfism, Thanatophoric
Dysautonomia, Familial
Dysmorphology Syndrome
Dysplasia, Focal Cerebellar
Dysplasia, Maturational
Dysplasia, Pontomedullocerebellar
Dystonia / Corticobasal Ganglionic Degeneration(+)
Dystonia, Acquired, Post Traumatic
Dystonia, Adult Onset, Acute / Ataxia
Dystonia, Blepharospasm
Dystonia, Blepharospasm / Alzheimer's Disease
Dystonia, Blepharospasm, Meige Syndrome
Dystonia, Blepharospasm, Tardive Dyskinesia
Dystonia, DYT1 GAG Deletion, Carrier(+)
Dystonia, DYT1 GAG Deletion, Carrier / Cancer
Dystonia, DYT1 GAG Deletion, Generalized
Dystonia, Familial / Dementia / Lewy Body Disease
Dystonia, Generalized(+)
Dystonia, Generalized / Dementia
Dystonia, Generalized, Familial
Dystonia, Generalized, Familial, Meige Syndrome
Dystonia, Generalized, Meige Syndrome
Dystonia, Medication Induced
Dystonia, Medication Induced / Schizophrenia(+)
Dystonia, Meige Syndrome
Dystonia, Meige Syndrome / Alzheimer's Disease
Dystonia, Meige Syndrome / Glioblastoma
Dystonia, Meige Syndrome, Focal
Dystonia, Meige Syndrome, Mandibular
Dystonia, Multiple Systems Atrophy
Dystonia, Progressive / Cerebral Palsy
Dystonia, Spasmodic Dysphonia(+)
Dystonia, Spasmodic Dysphonia / Familial Tremor
Dystonia, Spasmodic Torticollis(+)
Dystonia, Spasmodic Torticollis / Alzheimer's Dise
Dystonia, Spasmodic Torticollis / Depression(+)
Dystonia, Suspected
Dystonia, Unaffected Relative(+)
Dystonia, Unaffected Relative / Alzheimer's Diseas
Encephalitis, (Japanese B)
Encephalitis, Viral
Encephalocele, Orbital
Encephalopathy, Anoxic Ischemic
Encephalopathy, Anoxic Ischemic / Cerebral Palsy
Encephalopathy, Anoxic Ischemic / Congenital Heart
Encephalopathy, Anoxic Ischemic / Dandy-Walker Mal
Encephalopathy, Anoxic Ischemic / Hydrocephalus
Encephalopathy, Anoxic Ischemic / Maternal Hyperth
Encephalopathy, Demyelinating
Encephalopathy, Global Static(+)
Encephalopathy, Metabolic
Encephalopathy, Metabolic with Intractable Seizure
Encephalopathy, Metabolic, NOS
Encephalopathy, Mitochondrial, NOS
Encephalopathy, Unknown Etiology
Endocardial Cushion Defect
Endocarditis, Acute
Endocarial Fibroelastosis
Epidermolysis Bullosa
Epilepsy / Intellectual Disability
Epilepsy / Ohtahara's Syndrome
Epilepsy / Parkinson's Disease
Epilepsy / Polymicrogyria
Epilepsy / SUDEP(+)
Epilepsy, Lennox-Gastaut Syndrome
Epilepsy, Myoclonic
Epilepsy, Severe Myoclonic
Ethylmalonic Encephalopathy(+)
Fabry's Disease
Failure to Thrive
Fibrosarcoma, Congenital
Fragile X(+)
Fragile X*
Fragile X, Carrier(+)
Fragile X, Carrier / Parkinson's Disease
Fragile X, Carrier*
Fragile X, Suspected(+)
Fragile X, Variant(+)
Freeman Sheldon Syndrome
Friedreich's Ataxia
Friedreich's Ataxia, SCA7
Frontotemporal Degeneration
Frontotemporal Lobar Degeneration(+)
Fryns Syndrome
Gangliosidosis, GM1(+)
Gaucher's Disease
Glioblastoma Multiforme
Glioblastoma Multiforme (WHO grade IV)(+)
Glioblastoma Multiforme (WHO grade IV) / Schizophr
Glycogen Storage Disease, NOS
Glycogenosis, Type IX
Hallerman Streiff Syndrome
Hemangioma,* periorbital
Hematopoietic Derangement
Hemochromatosis, Neonatal
Hepatic Encephalopathy (Alzheimer Type II Astr..)
Hereditary Neurodegenerative Disorder, NOS
Hippocampal Sclerosis
Hippocampal sclerosis dementia
Hirschsprung's Disease
Holoprosencephaly / Chromosomal Disorder, Trisomy
Holoprosencephaly, Alobar(+)
Huntington's Disease(+)
Huntington's Disease, Suspected
Hydrocephalus / Cerebral Palsy
Hydrocephalus / Intellectual Disability
Hydrocephalus /Intellectual Disability
Hydrocephalus, Etiology Undetermined
Hydrocephalus, X-linked
Hydrocephalus, X-linked Carrier*
Hydrops Fetalis
Hydrops Fetalis, Non-immune
Hyperplasia, Right Ventricle
Hypoplastic Left Heart Syndrome
Hypothyroidism, Maternal
Hypotonia, Congenital
Impulse Control Dis/Bipolar/ ADHD/ TBI?(+)
Inclusion Body Myositis(+)
Inclusion Body Myositis / Dementia, frontotemporal
Infarcts, Cystic
Intellectual Disability(+)
Intellectual Disability / Epilepsy(+)
Intellectual Disability / Fahr's Disease
Intellectual Disability, NOS
Interhemispheric brain cyst
Intestinal Lymphangectasia (Opiz BBB Syndrome)
Intraventricular Hemorrhage
Intraventricular Hemorrhage / Periventricular Leuk
Intraventricular Hemorrhage / Prematurity
JOB Syndrome(+)
Joseph's Disease
Joubert Syndrome(+)
Kawasaki's Disease
Klinefelter's syndrome(+)
Krabbe's Disease(+)
Kufs Disease(+)
Lactic Acidosis
Lawrence Moon Bardet Biedl Syndrome(+)
Leigh's Disease(+)
Leukemia, Acute Non-Lymphocytic
Leukodystrophy, Metachromatic(+)
Leukodystrophy, Orthochromic, Pigmentary Type
Leukodystrophy, Radiation Induced(+)
Leukodystrophy, Sudanophilic
Leukoencephalopathy / Global
Leukoencephalopathy / Nonketotic Hyperglycinemia
Lewy Body Disease(+)
Lewy Body Disease/Dementia(+)
Limb-body Wall Complex
Loeys-Dietz Syndrome(+)
Long chain fatty acid oxidation defect(+)
Lowe Syndrome(+)
Lowe Syndrome*
Lymphoproliferative Disorder, Post-transplant
Malformation, Brainstem
Malformation, Brainstem and Cerebellum
Meckel-Gruber Syndrome
Meckel-Gruber Syndrome / Holoprosencephaly
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Melanoma / Depression, NOS(+)
Meningoencephalitis, Chronic
Mental Retardation/Seizure Disorder
Metabolic Disorder(+)
Metabolic Disorder (complex)
Microcephaly / Epilepsy / Alzheimer's Disease Type
Mitochondrial Defect
Mitochondrial Disorder
Motor Neuron Disease, NOS
Movement Disorder, Unknown
Moya Moya Disease / Ammon's Horn Sclerosis
Mucolipidosis Type II(+)
Mucopolysaccharidosis, Hurler's Syndrome
Mucopolysaccharidosis, Sanfilippo Syndrome
Multiple Congenital Anomalies(+)
Multiple Congenital Anomalies (Normal Brain)
Multiple Congenital Anomalies (Twin)
Multiple Sclerosis(+)
Multiple Sclerosis / Alzheimer's Disease(+)
Multiple Sclerosis*
Multiple Sulfatase Deficiency(+)
Multiple Systems Atrophy(+)
Muscular Dystrophy(+)
Muscular Dystrophy / Diabetes
Muscular Dystrophy, Becker's Type(+)
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Facioscapulohumeral(+)
Mutliple Congenital Anomalies
Myasthenia Gravis
Myofibromatosis, Infantile
Myopathy, Congenital(+)
Myotonic Dystrophy
NBIA Disorder(+)
NBIA Disorder / Neuraxonal Dystrophy
NBIA Disorder, Adult Presentation
Nephrosis, Congenital, Suspected
Nephrotic Syndrome, Congenital
Neural Tube Defect
Neuraxonal Dystrophy
Neuroaxonal Dystrophy, Infantile(+)
Neurodegenerative Disorder
Neurodegenerative Disorder, NOS(+)
Neurodevelopmental Disorder, NOS(+)
Neurofibromatosis / Parkinson's Disease
Neurofibromatosis, Type I
Neurofibromatosis, Type I and Glioblastoma(+)
Neurofibromatosis, Type I*
Neurofibromatosis, Type II
Neurofibromatosis, Type Unknown
Neurological Disorder, Undiagnosed
Neuromuscular Disorder Undiagnosed
Neuronal Ceroid Lipofuscinosis(+)
Niemann-Pick Disease, Type C(+)
Niemann-Pick Disease, Type C*
Nonketotic Hyperglycinemia
Non-Mosaic Tetrasomy 9P
Noonan's Syndrome(+)
Ogilvies Syndrome(+)
Olivomedullocerebellar Dysplasia
Olivopontocerebellar Degeneration(+)
Ornithine Transcarbamylase Deficiency
Ornithine Transcarboxylase Deficiency
Orthotopic Heart Transplant
Osteogenesis Imperfecta
Paget Disease, R/O
Pallister-Killian Syndrome
Pantothenate Kinase Associated Neuro-degeneration  
Parkinson's Disease(+)
Parkinson's Disease / ALD, Carrier(+)
Parkinson's Disease / Alzheimer's Disease
Parkinson's Disease / Dementia(+)
Parkinson's Disease / Dementia, Multi-Infarct
Parkinson's Disease / Diabetes
Parkinson's Disease / Lewy Body Disease(+)
Parkinson's Disease, Juvenile Progressive
Pelizaeus-Merzbacher Disease(+)
Pentalogy of Cantrell
Periventricular Leukomalacia, Organizing / Congeni
Peroxisomal D-Bifunctional Protein Deficiency
Peroxisomal Disorder
Pick's Dimentia
Pick's Disease(+)
Polycystic Kidney Disease
Polyhydramnios / Twin to Twin Transfusion Syndrome
Polymicrogyria / Probable Zellweger's Syndrome
Polymicrogyria, Focal
Polymicropolygyria, Heterotopias / Periventricular
Polymyositis / Dermatomyositis
Pompe Disease
Posterior Urethral Valve Obstruction
Potter's Syndrome
Potter's Syndrome (Twin)
Prader-Willi - Like(+)
Prader-Willi Syndrome(+)
Prader-Willi Syndrome / SUDI(+)
Prader-Willi Syndrome*(+)
Prematurity, Extreme(+)
Progressive Supranuclear Palsy(+)
Propionic Acidemia
Proteus Syndrome(+)
Prune Belly Syndrome
Pseudo Prader-Willi Syndrome
Psychiatric Disorder / Diabetes
PTSD Suspected
Pulmonary Fibrosis(+)
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Deficiency
Renal Agenesis
Renal Aplasia
Respiratory Distress Syndrome
Respiratory Distress Syndrome / Intraventricular H
Rett Syndrome(+)
Rett Syndrome, Mutational Analysis Negative(+)
Rett Syndrome, Uncharacterized Sibling(+)
Sandhoff Disease
Sanfilippo Syndrome, Type D(+)
Sanfilippo Syndrome, Type III
Sarcoidosis, Pulmonary
Short Chain Acyl CoA Deficiency
Shy-Drager Syndrome(+)
Sickle Cell Disease(+)
SIDS, Co-Sleeping-No(+)
SIDS, Co-Sleeping-Unknown(+)
SIDS, Co-Sleeping-Yes(+)
Sirenomelia / Caudal Regression Syndrome
Skeletal Dysplasia
Smith-Lemli-Opitz Syndrome
Spina Bifida(+)
Spinal Cord Trauma
Spinal Muscular Atrophy
Spinal Muscular Atrophy, Type 1
Spinal Muscular Atrophy, Type 1*
Spinocerebellar Ataxia, Type 1
Spinocerebellar Ataxia, Type 2
Spinocerebellar Ataxia, Type 3
Spinocerebellar Degeneration, Type VII
Status Marmoratus
Stickler Syndrome
Sturge-Weber Syndrome(+)
Sturge-Weber Syndrome / Alzheimer's Disease
Sturge-Weber Syndrome / Epilepsy
Sturge-Weber Syndrome*
Sturge-Weber Syndrome* / ASD / Autism, Suspected
Sturge-Weber Syndrome, Bilateral
Sturge-Weber Syndrome, Suspected
Subarachnoid Hemorrhage
Sudden Unexpected Death in Infancy(+)
Sudden Unexplained Death(+)
Systemic Lupus Erythematosus
Tay-Sachs Disease(+)
Tay-Sachs Disease, Suspected
Tourette's Syndrome
Tracheal Atresia
Traumatic Brain Injury
Trisomy 8 mosaic
Tuberous Sclerosis(+)
Tuberous Sclerosis / Epilepsy
Tuberous Sclerosis / LAM
Tuberous Sclerosis*
Tuberous Sclerosis* / Epilepsy*
Tuberous Sclerosis, ASD Suspected(+)
Turner Syndrome
Vanishing White Matter Disease(+)
Vascular Malformations, Multiple
Vater / Vacteral Syndrome
VCP Inclusion Body Myopathy
Von Hippel-Lindau Disease
Von Hippel-Lindau Disease*
Von Hippel-Lindau Disease, Suspected*
Walker-Warburg Syndrome
Williams Syndrome(+)
Wolf-Hirshlorn Syndrome
Wolf-Parkinson-White Syndrome
Xeroderma Pigmentosum(+)
X-Linked Encephalomyopathy
X-Linked Encephalomyopathy / Epilepsy
X-Linked Intellectual Disability / Epilepsy
X-linked Myopathy
Yoder Dystonia(+)
Zellweger Spectrum (neonatal ALD)
Zellweger Spectrum (neonatal ALD), PEX1 Defect(+)
Zellweger, Related, (neonatal ALD)
Zellweger's Syndrome(+)
Zellweger's Syndrome, Psuedo(+)