Congenital Disorder Of Deglycosylation

Parkinson Disease, Late-Onset

Retinitis Pigmentosa,Chondrodysplasia, Blomstrand Type,Nanophthalmos,Muscle Eye Brain Disease,Kenny-Caffey Syndrome,Amyotrophic Lateral Sclerosis 1,Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy,Spinal Muscular Atrophy,Muscular Dystrophy,Muscular Atrophy,Congenital Muscular Dystrophy-Dystroglycanopathy Type A11,Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome,Subclavian Steal Syndrome,Muscular Dystrophy-Dystroglycanopathy , Type A, 11,Substernal Goiter,Caffey Disease,Microcephaly,Chorioretinal Scar,Hypoparathyroidism,Parathyroid Gland Disease,Kenny-Caffey Syndrome, Type 2,Walker-Warburg Syndrome,Hypoparathyroidism-Retardation-Dysmorphism Syndrome,Muscular Dystrophy-Dystroglycanopathy,Kenny-Caffey Syndrome, Type 1,Neuronopathy, Distal Hereditary Motor, Type Viib,Retinitis Pigmentosa 2

Familial Renal Papillary Carcinoma,Clear Cell Renal Cell Carcinoma,Dermis Tumor,Familial Isolated Hypoparathyroidism,Leiomyoma Cutis,Retinal Hemangioblastoma,Molluscum Contagiosum,Primary Polycythemia,Pheochromocytoma,Von Hippel-Lindau Syndrome,Renal Cell Carcinoma, Nonpapillary,Cardiovascular Organ Benign Neoplasm,Erythrocytosis, Familial, 2

Autoinflammation, Panniculitis, And Dermatosis Syndrome,Glycogen Storage Disease Iv,Tooth Agenesis,Incontinentia Pigmenti

Amyotrophic Lateral Sclerosis 18,Amyotrophic Lateral Sclerosis 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Giant Axonal Neuropathy 2,Amyotrophic Lateral Sclerosis 8,Lateral Sclerosis,Motor Neuron Disease,Hereditary Spastic Paraplegia,Multisystem Proteinopathy,Spinocerebellar Ataxia 1,Dementia,Amyotrophic Lateral Sclerosis 4, Juvenile,Progressive Muscular Atrophy,Pick Disease Of Brain,Autosomal Dominant Cerebellar Ataxia,Amyotrophic Lateral Sclerosis 19,Disease Of Mental Health,Dermatopathia Pigmentosa Reticularis,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4,Spinocerebellar Ataxia 2,Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia,Amyotrophic Lateral Sclerosis 9,Brown-Vialetto-Van Laere Syndrome,Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia,Amyotrophic Lateral Sclerosis 16, Juvenile,Fragile X-Associated Tremor/Ataxia Syndrome,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Amyotrophic Lateral Sclerosis Type 6,Amyotrophic Lateral Sclerosis Type 12,Amyotrophic Lateral Sclerosis Type 14,Amyotrophic Lateral Sclerosis Type 15,Frontotemporal Dementia

Seborrheic Infantile Dermatitis,Cataract 24,Oral Mucosa Leukoplakia,Tinea Pedis,Mental Retardation, Autosomal Recessive 14,Autosomal Recessive Disease,Autosomal Recessive Non-Syndromic Intellectual Disability

Progressive Multifocal Leukoencephalopathy,Cleft Lip,Orofacial Cleft 4,Acute Necrotizing Encephalitis,Lip Cancer,Cleft Palate, Isolated,Neuronal Intranuclear Inclusion Disease,Orofacial Cleft 10,Dentatorubral-Pallidoluysian Atrophy,Familial Partial Lipodystrophy,Orofacial Cleft,Tooth Agenesis,Acute Promyelocytic Leukemia,Early-Onset Parkinson'S Disease,Frontotemporal Dementia

Myopathy,Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency,Autoinflammation, Panniculitis, And Dermatosis Syndrome,Hepatitis B,Frontometaphyseal Dysplasia,Glycogen Storage Disease,Glycogen Storage Disease Iv,Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency,Tooth Agenesis,Incontinentia Pigmenti,Myoclonic Epilepsy Of Lafora

Retinitis Pigmentosa 50,Mitochondrial Dna Depletion Syndrome 4a

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome,Breast Cancer,Colorectal Cancer,Oligospermia,Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant,Retinoblastoma,Neuropathy, Hereditary Sensory, Type Ie,Oculoauricular Syndrome,Cartilage-Hair Hypoplasia

Deafness, Autosomal Dominant 69

Tracheitis,Friedreich Ataxia 2,Cone-Rod Dystrophy 2

Chronic Kidney Disease,Crisponi/Cold-Induced Sweating Syndrome 1,Kidney Disease,Hepatocellular Carcinoma

Alzheimer Disease,Submucosal Cleft Palate,Cleft Hard Palate,Parkinson Disease, Late-Onset,Patella, Chondromalacia Of,Pick Disease Of Brain,Xeroderma Pigmentosum, Complementation Group C,Cleft Soft Palate,Encephalopathy, Familial, With Neuroserpin Inclusion Bodies,Smith-Magenis Syndrome,Down Syndrome,Uvula, Bifid,Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism,Mulibrey Nanism,Myoclonic Epilepsy Of Lafora

Viral Infectious Disease,Coronavirus Infectious Disease,Hepatitis E,Middle East Respiratory Syndrome,Avian Influenza,Amyotrophic Lateral Sclerosis 1,Crimean-Congo Hemorrhagic Fever,Noonan Syndrome 1,Influenza,Bacterial Infectious Disease,Japanese Encephalitis,Adult Dermatomyositis,Childhood Type Dermatomyositis,Vaccinia,Immunodeficiency 27b,Immunodeficiency 38 With Basal Ganglia Calcification,Aicardi-Goutieres Syndrome,Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations,Acute Promyelocytic Leukemia,Adams-Oliver Syndrome,Basal Ganglia Calcification,Systemic Lupus Erythematosus,Microphthalmia With Limb Anomalies,Oliver Syndrome

Progressive Myoclonus Epilepsy,Supranuclear Palsy, Progressive, 1,Retinitis Pigmentosa,Rem Sleep Behavior Disorder,Lung Cancer Susceptibility 3,Tremor,Optic Nerve Disease,Prion Disease,Gaucher'S Disease,Sphingolipidosis,Alzheimer Disease,Ulnar Nerve Lesion,Radial Nerve Lesion,Amyotrophic Lateral Sclerosis 1,Angelman Syndrome,Motor Neuron Disease,Movement Disease,Neurodegeneration With Brain Iron Accumulation,Testicular Disease,Leber Plus Disease,Essential Tremor,Choreatic Disease,Machado-Joseph Disease,Dementia,Optic Atrophy 1,Cerebellar Disease,Leukoencephalopathy, Hereditary Diffuse, With Spheroids,Parkin Type Of Early-Onset Parkinson Disease,Dystonia,Nervous System Disease,Ovarian Cancer,Charcot-Marie-Tooth Disease,Paratyphoid Fever,Parkinson Disease, Late-Onset,Peripheral Nervous System Disease,Parkinson Disease 3, Autosomal Dominant,Parkinson Disease 1, Autosomal Dominant,Tooth Disease,Pick Disease Of Brain,Postencephalitic Parkinson Disease,Autosomal Dominant Cerebellar Ataxia,Fanconi Anemia, Complementation Group A,Disease Of Mental Health,Gaucher Disease, Type I,Toxic Encephalopathy,Body Mass Index Quantitative Trait Locus 11,Dentatorubral-Pallidoluysian Atrophy,Meier-Gorlin Syndrome 2,Dementia, Lewy Body,Dystonia 12,Schizophrenia,Ophthalmomyiasis,Restless Legs Syndrome,Parkinson Disease 21,Kufor-Rakeb Syndrome,Leprosy 3,Focal Dystonia,Parkinson Disease 10,Attention Deficit-Hyperactivity Disorder,Autism Spectrum Disorder,Multiple System Atrophy 1,Color Agnosia,Leber Hereditary Optic Neuropathy, Modifier Of,Leprosy 2,Mitochondrial Complex I Deficiency, Nuclear Type 1,Epilepsy, Idiopathic Generalized 9,Ptosis,Rett Syndrome,Myoclonic Epilepsy Of Lafora,Autism,Juvenile-Onset Parkinson'S Disease,Early-Onset Parkinson'S Disease,Parkinson Disease 2, Autosomal Recessive Juvenile,Lung Cancer,Parkinson Disease 15, Autosomal Recessive Early-Onset

Retinitis Pigmentosa,Epilepsy,Middle East Respiratory Syndrome,Alzheimer Disease,Ectodermal Dysplasia,Angelman Syndrome,Luteoma,Cystic Fibrosis,Machado-Joseph Disease,Ethmoid Sinus Adenocarcinoma,Xeroderma Pigmentosum, Complementation Group C,Neuronal Ceroid Lipofuscinosis,Ring Dermoid Of Cornea,Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant,Myoclonic Epilepsy Of Lafora,Gordon Holmes Syndrome

Non-Invasive Bladder Papillary Urothelial Neoplasm,Isolated Unilateral Hemispheric Cerebellar Hypoplasia,Periventricular Nodular Heterotopia

Stomatitis,Myoclonic Epilepsy Of Lafora

Gordon Holmes Syndrome

Brachydactyly, Type A1

Xeroderma Pigmentosum Group E,Xeroderma Pigmentosum, Complementation Group A,Xeroderma Pigmentosum, Complementation Group C,Xeroderma Pigmentosum, Complementation Group D,Xeroderma Pigmentosum, Variant Type,Xeroderma Pigmentosum, Complementation Group F,Xeroderma Pigmentosum, Complementation Group G,Breast Disease,Mutagen Sensitivity,Xeroderma Pigmentosum, Complementation Group B,Lynch Syndrome,Uv-Sensitive Syndrome

Brain Sarcoma,Angelman Syndrome,Paget'S Disease Of Bone,Xeroderma Pigmentosum, Complementation Group C,Xeroderma Pigmentosum, Variant Type,Xeroderma Pigmentosum, Complementation Group G

Rett Syndrome,Primary Hypomagnesemia