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Tissues Available by Disorder Name

The following information is provided for each individual case: demographics 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 “UMB BTB Portal” link. The portal also lists medical records and neuropathology reports that are in compliance with HIPAA regulations.

Case numbers followed by a star (*) indicate surgical samples.

Case numbers followed by a plus (+) indicate that RIN values for brain RNA, brain pH and/or 260/280 values for DNA are listed.

DISORDER UMBN
Achondrogenesis, Type II
 
Acrania / Multiple Congenital Anomalies
 
Addison's Disease
 
ADHD(+)
 
ADHD / Grave's Disease / Developmental Delays
 
Adrenomyeloneuropathy
 
Agenesis of Corpus Callosum
 
Aicardi-Goutieres Syndrome
 
Aicardi-Goutieres Syndrome*
 
ALD(+)
 
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/Down's Syndrome
 
Alzheimer's Disease-like, Mild
 
Amniotic Band Syndrome
 
Amyotrophic Lateral Sclerosis(+)
 
Amyotrophic Lateral Sclerosis / Progressive Supran
 
Anencephaly
 
Angelman Syndrome(+)
 
Anoxic-Ischemic Injury
 
Aprosencephaly
 
Arnold Chiari Disease(+)
 
Arnold Chiari Malformation
 
Arthrogryposis
 
Arthrogryposis / Periventricular Leukomalacia
 
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
 
ASD/ Asperger's Syndrome(+)
 
Asphyxia, perinatal
 
Asthma(+)
 
Astrocytoma(+)
 
Astrocytoma, Grade III
 
Ataxia
 
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
 
CADASIL(+)
 
Cancer, CNS
 
Cancer, Esphogeal Origin
 
Carbohydrate Glycoprotein Deficiency Syndrome
 
Cardiomyopathy, Hypertrophic
 
Cardiomyopathy, Ischemic
 
Carnitine Deficiency
 
Caudal Regression Syndrome
 
Caudal Regression Syndrome / Maternal Diabetes
 
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
 
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 21(+)
 
Chromosomal Disorder, Trisomy 21 / Alzheimer's(+)
 
Chromosomal Disorder, Trisomy 21, Triple X
 
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).
 
Citrullinemia
 
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(+)
 
Control (Triplets)
 
Control (Twins)
 
Control (Twins) / Maternal Diabetes
 
Control / Maternal Diabetes
 
Control / Prematurity
 
Control*
 
Cornelia de Lange Syndrome
 
Corticobasal Ganglionic 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(+)
 
Dementia / Lewy Body Disease
 
Dementia, Multi-infarct Type(+)
 
Dementia, NOS(+)
 
Depression / Bipolar, Suspected(+)
 
Depression, NOS(+)
 
Dermatomyositis
 
Diabetes
 
Diabetes, Type I
 
Diaphragmatic Hernia
 
DiGeorge Syndrome
 
Dwarfism / Rhizomelic Chondrodysplasia Punctata
 
Dwarfism, Achondroplastic(+)
 
Dwarfism, Thanatophoric
 
Dysautonomia, Familial
 
Dysmorphology Syndrome
 
Dysplasia, Focal Cerebellar
 
Dysplasia, Maturational
 
Dysplasia, Pontomedullocerebellar
 
Dystonia(+)
 
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
 
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
 
Ependymoma
 
Epidermolysis Bullosa
 
Epilepsy(+)
 
Epilepsy / Intellectual Disability
 
Epilepsy / Ohtahara's Syndrome
 
Epilepsy / Parkinson's Disease
 
Epilepsy / Polymicrogyria
 
Epilepsy / SUDEP(+)
 
Epilepsy*
 
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 Lobar Degeneration(+)
 
Fryns Syndrome
 
Gangliosidosis, GM1(+)
 
Gaucher's Disease
 
Glioblastoma(+)
 
Glioblastoma Multiforme
 
Glioblastoma Multiforme (WHO grade IV)(+)
 
Glioblastoma Multiforme (WHO grade IV) / Schizophr
 
Glycogen Storage Disease, NOS
 
Glycogenosis, Type IX
 
Gynecomastia*
 
Hallerman Streiff Syndrome
 
Hemangioma,* periorbital
 
Hematopoietic Derangement
 
Hemochromatosis, Neonatal
 
Hepatic Encephalopathy (Alzheimer Type II Astr..)
 
Hereditary Neurodegenerative Disorder, NOS
 
Hippocampal Sclerosis
 
Hirschsprung's Disease
 
Holoprosencephaly(+)
 
Holoprosencephaly / Chromosomal Disorder, Trisomy
 
Holoprosencephaly, Alobar(+)
 
Homocystinuria(+)
 
Huntington's Disease(+)
 
Huntington's Disease, Suspected
 
Hydranencephaly
 
Hydrocephalus
 
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
 
Hyperglycinemia(+)
 
Hyperplasia, Right Ventricle
 
Hypoplastic Left Heart Syndrome
 
Hypothyroidism, Maternal
 
Hypotonia
 
Hypotonia, Congenital
 
Ichythiosis
 
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
 
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(+)
 
Klippel-Trenaunay Syndrome*
 
Krabbe's Disease(+)
 
Kufs Disease(+)
 
Lactic Acidosis
 
Lawrence Moon Bardet Biedl Syndrome(+)
 
Leigh's Disease(+)
 
Leukemia, Acute Non-Lymphocytic
 
Leukodystrophy(+)
 
Leukodystrophy, Metachromatic(+)
 
Leukodystrophy, Orthochromic, Pigmentary Type
 
Leukodystrophy, Radiation Induced(+)
 
Leukodystrophy, Sudanophilic
 
Leukoencephalopathy
 
Leukoencephalopathy / Global
 
Leukoencephalopathy / Nonketotic Hyperglycinemia
 
Lewy Body Disease(+)
 
Lewy Body Disease/Dementia
 
Limb-body Wall Complex
 
Lissencephaly
 
Loeys-Dietz Syndrome(+)
 
Long chain fatty acid oxidation defect(+)
 
Lowe Syndrome(+)
 
Lowe Syndrome*
 
Lymphoproliferative Disorder, Post-transplant
 
Macrocephaly
 
Malformation, Brainstem
 
Malformation, Brainstem and Cerebellum
 
Meckel-Gruber Syndrome
 
Meckel-Gruber Syndrome / Holoprosencephaly
 
Medium Chain Acyl-CoA Dehydrogenase Deficiency
 
Meningioma(+)
 
Meningioma*
 
Meningoencephalitis, Chronic
 
Meningomyelocele
 
Metabolic Disorder
 
Metabolic Disorder (complex)
 
Microcephaly
 
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
 
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(+)
 
Neuroblastoma(+)
 
Neurodegenerative Disorder
 
Neurodegenerative Disorder, NOS(+)
 
Neurodevelopmental Disorder, NOS(+)
 
Neurofibromatosis / Parkinson's Disease
 
Neurofibromatosis*
 
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
 
Noonan's Syndrome(+)
 
Ogilvies Syndrome(+)
 
Oligohydramnios
 
Olivomedullocerebellar Dysplasia
 
Olivopontocerebellar Degeneration(+)
 
Ornithine Transcarbamase Deficiency
 
Ornithine Transcarbamylase Deficiency
 
Orthotopic Heart Transplant
 
Osteogenesis Imperfecta
 
Osteomyelitis
 
Osteopetrosis
 
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-Merzblacher Disease(+)
 
Pentalogy of Cantrell
 
Periventricular Leukomalacia, Organizing / Congeni
 
Peroxisomal D-Bifunctional Protein Deficiency
 
Peroxisomal Disorder
 
Phenylketonuria(+)
 
Pick's Dimentia
 
Pick's Disease(+)
 
Polycystic Kidney Disease
 
Polyhydramnios / Twin to Twin Transfusion Syndrome
 
Polymicrogyria
 
Polymicrogyria / Probable Zellweger's Syndrome
 
Polymicrogyria, Focal
 
Polymicropolygyria, Heterotopias / Periventricular
 
Polymyositis(+)
 
Polymyositis / Dermatomyositis
 
Pompe Disease
 
Porencephaly
 
Posterior Urethral Valve Obstruction
 
Potter's Syndrome
 
Potter's Syndrome (Twin)
 
Prader-Willi - Like(+)
 
Prader-Willi Syndrome(+)
 
Prader-Willi Syndrome*(+)
 
Prematurity
 
Prematurity, Extreme(+)
 
Progressive Supranuclear Palsy(+)
 
Propionic Acidemia
 
Proteus Syndrome(+)
 
Prune Belly Syndrome
 
Pseudo Prader-Willi Syndrome
 
Psychiatric Disorder / Diabetes
 
Pulmonary Fibrosis(+)
 
Pyruvate Carboxylase Deficiency
 
Pyruvate Dehydrogenase Deficiency
 
Renal Agenesis
 
Renal Aplasia
 
Respiratory Distress Syndrome
 
Respiratory Distress Syndrome / Intraventricular H
 
Retinoblastoma
 
Rett Syndrome(+)
 
Rett Syndrome, Mutational Analysis Negative(+)
 
Rett Syndrome, Uncharacterized Sibling(+)
 
Rhombencephalosynapsis
 
Sandhoff Disease
 
Sanfilippo Syndrome, Type D(+)
 
Sanfilippo Syndrome, Type III
 
Sarcoidosis, Pulmonary
 
Schizencephaly
 
Schizo-Affective Disorder
 
Schizophrenia
 
Schizophrenia / Epilepsy
 
Scleroderma
 
Scoliosis
 
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(+)
 
Spina Bifida, Arnold-Chiari Malformation II
 
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 Degeneration, Type VII
 
Status Marmoratus
 
Stickler Syndrome
 
Stroke(+)
 
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
 
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
 
Von Hippel-Lindau Disease
 
Von Hippel-Lindau Disease*
 
Von Hippel-Lindau Disease, Suspected*
 
Walker-Warburg Syndrome
 
Williams 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(+)