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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: all disorders due to chromosomal abnormalities are listed as follows: Chromosomal Disorder, Trisomy 21; etc.

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

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, 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 Syndrome
Chromosomal Disorder, Unbalanced Translocation
Chromosomal Disorder, X X X X Y Syndrome
Chromosome 9P Deletion(+)
Chromosonal Disord., Transl, ..t (4,11) (q35:q23).
Cocaine Abuse, Maternal
Cockayne Syndrome(+)
Cockayne Syndrome Type II(+)
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
Achondrogenesis, Type II
Acrania; Multiple Congenital Anomalies
Addison Disease
ADHD; Grave Disease; Developmental Delays
Agenesis of Corpus Callosum
Aicardi-Goutieres Syndrome
Aicardi-Goutieres Syndrome*
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(+)
ALD; Alzheimer Disease(+)
Alexander Disease(+)
Alpers Syndrome(+)
Alpers Syndrome*
Alternating Hemiplegia of Childhood
Alzheimer Disease(+)
Alzheimer Disease, Early Onset(+)
Alzheimer Disease, Lewy Body Variant(+)
Alzheimer Disease, Lewy Body Variant; Schizoph
Alzheimer Disease; Cerebral Vascular Disease
Alzheimer Disease; Dementia
Alzheimer Disease; Down Syndrome(+)
Alzheimer Disease; Inclusion Body Myositis(+)
Alzheimer Disease; Parkinson Disease
Alzheimer Disease-like, Mild
Alzheimer; Adrenoleukodystrophy, Carrier
Amniotic Band Syndrome
Amyotrophic Lateral Sclerosis(+)
Amyotrophic Lateral Sclerosis, Bulbar onset(+)
Amyotrophic Lateral Sclerosis, Familial(+)
Amyotrophic Lateral Sclerosis, Lower motor predom.
Amyotrophic Lateral Sclerosis, Upper motor predom.
Amyotrophic Lateral Sclerosis; Carcinoma(+)
Amyotrophic Lateral Sclerosis; Dementia(+)
Amyotrophic Lateral Sclerosis; Progressive Supran
Angelman Syndrome(+)
Anoxic-Ischemic Injury
Arthrogryposis; Periventricular Leukomalacia
ASD - Asperger Syndrome(+)
ASD - Asperger Syndrome, Suspected(+)
ASD - Autism(+)
ASD - Autism Related, PDD(+)
ASD - Autism Sibling, Social Anxiety Disorder(+)
ASD - Autism, Suspected(+)
ASD - Autism, Unaffected Relative(+)
ASD - Autism, Unaffected Relative; Glioblastoma
ASD - Autism; ALS(+)
ASD - Autism; Anxiety; Epilepsy(+)
ASD - Autism; Epilepsy; IDIC 15
ASD - Autism; Parkinson Disease(+)
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 Syndrome
Binswanger Syndrome
Binswanger Syndrome; Alzheimer, 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 Ataxia
Cerebellar Degeneration(+)
Cerebral Edema of Unknown Etiology
Cerebral Occular Facial Syndrome
Cerebral Palsy(+)
Cerebral Palsy; Epilepsy
Cerebral Palsy; Fetal Alcohol Syndrome(+)
Cerebral Palsy; Hydrocephalus
Cerebral Palsy; Intellectual Disab.; Epilepsy
Cerebral Palsy; Parkinson Disease(+)
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
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, Multi-infarct Type(+)
Dementia, NOS(+)
Dementia; Lewy Body Disease
Depression, NOS(+)
Depression; Bipolar, Suspected(+)
Diabetes, Type I
Diaphragmatic Hernia
DiGeorge Syndrome
Down Syndrome(+)
Down Syndrome, Misdiagnosed(+)
Down Syndrome, Triple X
Down Syndrome; Alzheimer(+)
Dravet Syndrome(+)
Dwarfism, Achondroplastic(+)
Dwarfism, Thanatophoric
Dwarfism; Rhizomelic Chondrodysplasia Punctata
Dysautonomia, Familial
Dysmorphology Syndrome
Dysplasia, Focal Cerebellar
Dysplasia, Maturational
Dysplasia, Pontomedullocerebellar
Dystonia, Acquired, Post Traumatic
Dystonia, Adult Onset, Acute; Ataxia
Dystonia, Adult Onset, Segmental and Focal
Dystonia, Blepharospasm
Dystonia, Blepharospasm, Meige Syndrome
Dystonia, Blepharospasm, Tardive Dyskinesia
Dystonia, Blepharospasm; Alzheimer Disease
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, Familial
Dystonia, Generalized, Familial, Meige Syndrome
Dystonia, Generalized, Meige Syndrome
Dystonia, Generalized; Dementia
Dystonia, Medication Induced
Dystonia, Medication Induced; Schizophrenia(+)
Dystonia, Meige Syndrome
Dystonia, Meige Syndrome, Focal
Dystonia, Meige Syndrome, Mandibular
Dystonia, Meige Syndrome; Alzheimer Disease
Dystonia, Meige Syndrome; Glioblastoma
Dystonia, Multiple Systems Atrophy
Dystonia, Progressive; Cerebral Palsy
Dystonia, Spasmodic Dysphonia(+)
Dystonia, Spasmodic Dysphonia; Familial Tremor
Dystonia, Spasmodic Torticollis(+)
Dystonia, Spasmodic Torticollis; Alzheimer Dise
Dystonia, Spasmodic Torticollis; Depression(+)
Dystonia, Suspected
Dystonia, Unaffected Relative(+)
Dystonia, Unaffected Relative; Alzheimer Diseas
Dystonia; Corticobasal Ganglionic Degeneration(+)
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, Lennox-Gastaut Syndrome
Epilepsy, Myoclonic
Epilepsy, Severe Myoclonic
Epilepsy; Intellectual Disability
Epilepsy; Intracranial Hemorrhage(+)
Epilepsy; Ohtahara Syndrome
Epilepsy; Polymicrogyria
Epilepsy; SUDEP(+)
Ethylmalonic Encephalopathy(+)
Fabry Disease
Failure to Thrive
Fatty Acid Oxidation Disorder(+)
Fibrosarcoma, Congenital
Fragile X(+)
Fragile X*
Fragile X, Carrier(+)
Fragile X, Carrier*
Fragile X, Carrier; Parkinson Disease
Fragile X, Suspected(+)
Fragile X, Variant(+)
Freeman Sheldon Syndrome
Friedreich Ataxia
Friedreich Ataxia, SCA7
Frontotemporal Degeneration
Frontotemporal Lobar Degeneration(+)
Fryns Syndrome
Gangliosidosis, GM1(+)
Gaucher 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 Disease
Holoprosencephaly, Alobar(+)
Holoprosencephaly; Chromosomal Disorder, Trisomy
Huntington Disease(+)
Huntington Disease, Suspected
Hydrocephalus, Etiology Undetermined
Hydrocephalus, X-linked
Hydrocephalus, X-linked Carrier*
Hydrocephalus; Cerebral Palsy
Hydrocephalus; Intellectual Disability
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, NOS
Intellectual Disability; Epilepsy(+)
Intellectual Disability; Fahr Disease
Interhemispheric brain cyst
Intestinal Lymphangectasia (Opiz BBB Syndrome)
Intraventricular Hemorrhage
Intraventricular Hemorrhage; Periventricular Leuk
Intraventricular Hemorrhage; Prematurity
JOB Syndrome(+)
Joseph Disease
Joubert Syndrome(+)
Kawasaki Disease
Klinefelter Syndrome (47,XXY)(+)
Krabbe Disease(+)
Kufs Disease(+)
Lactic Acidosis
Lawrence Moon Bardet Biedl Syndrome(+)
Leigh 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
Macrocephaly-Capillary Malformation Syndrome(+)
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 Disease Type
Mitochondrial Defect
Mitochondrial Disorder
Motor Neuron Disease, NOS
Movement Disorder, Unknown
Moya Moya Disease; Ammon Horn Sclerosis
Mucolipidosis Type II(+)
Mucopolysaccharidosis, Hurler Syndrome
Mucopolysaccharidosis, Sanfilippo Syndrome
Multiple Congenital Anomalies(+)
Multiple Congenital Anomalies (Normal Brain)
Multiple Congenital Anomalies (Twin)
Multiple Sclerosis(+)
Multiple Sclerosis*
Multiple Sclerosis; Alzheimer Disease(+)
Multiple Sulfatase Deficiency(+)
Multiple Systems Atrophy(+)
Muscular Dystrophy(+)
Muscular Dystrophy, Becker Type(+)
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Facioscapulohumeral(+)
Muscular Dystrophy; Diabetes
Mutliple Congenital Anomalies
Myasthenia Gravis
Myofibromatosis, Infantile
Myopathy, Congenital(+)
Myotonic Dystrophy
NBIA Disorder(+)
NBIA Disorder, Adult Presentation
NBIA Disorder; Neuraxonal Dystrophy
Nephrosis, Congenital, Suspected
Nephrotic Syndrome, Congenital
Neural Tube Defect
Neuraxonal Dystrophy
Neuroaxonal Dystrophy, Infantile(+)
Neurodegenerative Disorder
Neurodegenerative Disorder, NOS(+)
Neurodevelopmental Disorder, NOS(+)
Neurofibromatosis, Type I
Neurofibromatosis, Type I and Glioblastoma(+)
Neurofibromatosis, Type I*
Neurofibromatosis, Type II
Neurofibromatosis, Type Unknown
Neurofibromatosis; Parkinson Disease
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 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
Parkinson Disease(+)
Parkinson Disease, Juvenile Progressive
Parkinson Disease; ALD, Carrier(+)
Parkinson Disease; Alzheimer Disease
Parkinson Disease; Dementia(+)
Parkinson Disease; Dementia, Multi-Infarct
Parkinson Disease; Diabetes
Parkinson Disease; Lewy Body Disease(+)
Pelizaeus-Merzbacher Disease(+)
Pentalogy of Cantrell
Periventricular Leukomalacia, Organizing; Congeni
Peroxisomal D-Bifunctional Protein Deficiency
Peroxisomal Disorder
Pick Dementia
Pick Disease(+)
Polycystic Kidney Disease
Polyhydramnios; Twin to Twin Transfusion Syndrome
Polymicrogyria, Focal
Polymicrogyria; Probable Zellweger Syndrome
Polymicropolygyria, Heterotopias; Periventricular
Polymyositis; Dermatomyositis
Pompe Disease
Posterior Urethral Valve Obstruction
Potter Syndrome
Potter Syndrome (Twin)
Prader-Willi - Like(+)
Prader-Willi Syndrome(+)
Prader-Willi Syndrome*(+)
Prader-Willi Syndrome, Pseudo
Prader-Willi Syndrome; SUDI(+)
Prematurity, Extreme(+)
Progressive Supranuclear Palsy(+)
Propionic Acidemia
Proteus Syndrome(+)
Prune Belly 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-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*
Sturge-Weber Syndrome*; ASD; Autism, Suspected
Sturge-Weber Syndrome, Bilateral
Sturge-Weber Syndrome, Suspected
Sturge-Weber Syndrome; Alzheimer Disease
Sturge-Weber Syndrome; Epilepsy
Subarachnoid Hemorrhage
Sudden Unexpected Death in Infancy(+)
Sudden Unexplained Death(+)
Sudden Unexplained Death in Infancy(+)
Systemic Lupus Erythematosus
Tay-Sachs Disease(+)
Tay-Sachs Disease, Suspected
Tourette Syndrome
Tracheal Atresia
Traumatic Brain Injury(+)
Trisomy 18
Trisomy 8 mosaic
Tuberous Sclerosis(+)
Tuberous Sclerosis*
Tuberous Sclerosis*; Epilepsy*
Tuberous Sclerosis, ASD Suspected(+)
Tuberous Sclerosis; Epilepsy
Tuberous Sclerosis; LAM
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 Syndrome(+)
Zellweger Syndrome, Psuedo(+)
Zellweger, Related, (neonatal ALD)