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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.

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/ Dementia
 
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
 
Autism
 
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, Misdiagnosed(+)
 
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 Degeneration
 
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
 
HLHS/ interhemispheric brain cyst
 
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(+)
 
Krabbe's Disease(+)
 
Kufs Disease(+)
 
Lactic Acidosis
 
Lawrence Moon Bardet Biedl Syndrome(+)
 
Leigh's Disease(+)
 
Lennox-Gasteau Syndrome
 
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
 
Mental Retardation/Seizure Disorder
 
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
 
Non-Mosaic Tetrasomy 9P
 
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
 
PTSD
 
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
 
Scleroderma
 
Scoliosis
 
Seizure Disorder(+)
 
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 Ataxia, Type 3
 
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
 
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
 
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(+)