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agenesis of the corpus callosum with peripheral neuropathy
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
arteriosclerosis obliterans
Arteriosclerosis, Severe Juvenile
arteriosclerotic cardiovascular disease +
Ataxia with Myoclonic Epilepsy and Presenile Dementia
Bagatelle Cassidy Syndrome
Bone Marrow Failure and Diabetes Mellitus Syndrome
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
childhood-onset neurodegeneration with brain atrophy
Childhood-Onset Neurodegeneration with Cerebellar Atrophy
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
Congenital Deafness and Familial Myoclonic Epilepsy
coronary artery disease +
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
Diabetes Mellitus, Congenital Autoimmune
Diabetes Mellitus, New-Onset after Transplantation
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diffuse Mesangial Sclerosis
early myoclonic encephalopathy +
Experimental Diabetes Mellitus
eye degenerative disease +
familial adult myoclonic epilepsy +
Familial Convulsive Disorder with Prenatal or Early Onset
familial encephalopathy with neuroserpin inclusion bodies
familial nephrotic syndrome +
Feigenbaum Bergeron Richardson Syndrome
Forney Robinson Pascoe Syndrome
Furukawa Takagi Nakao Syndrome
Hagemoser Weinstein Bresnick Syndrome
Huntington's disease-like 2
Hutterite Cerebroosteonephrodysplasia Syndrome
Idiopathic Basal Ganglia Calcification 1
Idiopathic Basal Ganglia Calcification 6
Idiopathic Basal Ganglia Calcification 7
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans
intermittent claudication
intracranial arteriosclerosis +
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome
juvenile myoclonic epilepsy +
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
maturity-onset diabetes of the young +
Microcephaly, Epilepsy, and Diabetes Syndrome +
Mitochondrial Myopathy with Diabetes
Monckeberg arteriosclerosis
multiple system atrophy +
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
myoclonic cerebellar dyssynergia +
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
Myoclonic Epilepsy, Familial Infantile
Myoclonic Epilepsy, Hartung Type
myoclonic-atonic epilepsy
Myoclonus, Cerebellar Ataxia, and Deafness
Neonatal Intractable Myoclonus
Nephrotic Syndrome with Ocular Anomalies
Nervous System Heredodegenerative Disorders +
Nervous System Paraneoplastic Syndromes +
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
neurodegeneration with brain iron accumulation +
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neuronal intranuclear inclusion disease
Odontochondrodysplasia 2 with Hearing Loss and Diabetes
olivopontocerebellar atrophy +
Opsoclonus-Myoclonus Syndrome +
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Photoparoxysmal Response 3
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
pontocerebellar hypoplasia +
postpoliomyelitis syndrome
Premature Aging, Okamoto Type
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
primary cerebellar degeneration +
Progressive External Ophthalmoplegia with Myoclonus
progressive myoclonus epilepsy +
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
Schimke immuno-osseous dysplasia
secondary Parkinson disease +
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
Spastic Paraplegia with Myoclonic Epilepsy
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Subacute Combined Degeneration
thiamine-responsive megaloblastic anemia syndrome
type 1 diabetes mellitus +
type 2 diabetes mellitus +
Wolfram syndrome, mitochondrial form
Woodhouse-Sakati syndrome
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