Pontocerebellar Hypoplasia, Type 3,Mosaic Variegated Aneuploidy Syndrome,Choreatic Disease,Mosaic Variegated Aneuploidy Syndrome 3,Microcephaly,Pontocerebellar Hypoplasia, Type 4,Pontocerebellar Hypoplasia, Type 2a,Pontocerebellar Hypoplasia, Type 5,Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia,Mosaic Variegated Aneuploidy Syndrome 2,Wilms Tumor 1,Pontocerebellar Hypoplasia,Oocyte Maturation Defect 9,Lung Cancer

13q12.3 Microdeletion Syndrome,Microcephaly,Hypertrichosis Universalis Congenita, Ambras Type,Gluten Allergy,Joubert Syndrome 26

Cystic Fibrosis

Eyelid Carcinoma,Orofacial Cleft 4,Split Hand-Foot Malformation,Isolated Split Hand-Split Foot Malformation,Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive,Skin Squamous Cell Carcinoma,Split-Hand/Foot Malformation 6,Paranoid Personality Disorder,Shoulder Impingement Syndrome,Fanconi Anemia, Complementation Group A,Split-Hand/Foot Malformation 4,Split-Hand/Foot Malformation 1,Citrullinemia, Type Ii, Neonatal-Onset,Chromosome 2q35 Duplication Syndrome,Split-Hand/Foot Malformation 5,Split-Hand/Foot Malformation 3,Attention Deficit-Hyperactivity Disorder,Split-Hand/Foot Malformation 2

Histrionic Personality Disorder

Cone-Rod Dystrophy 2,Charcot-Marie-Tooth Disease, Axonal, Type 2e

Alzheimer Disease,Angelman Syndrome,Cystic Fibrosis,Cholera,Encephalopathy, Familial, With Neuroserpin Inclusion Bodies,Inflammatory Bowel Disease

Angelman Syndrome,Cystic Fibrosis

Angelman Syndrome,Cystic Fibrosis,Autosomal Dominant Cerebellar Ataxia

Parotid Gland Cancer,Submandibular Gland Cancer,Dentin Dysplasia,Submandibular Gland Disease,Dentin Dysplasia, Type I

Progressive Myoclonus Epilepsy,Dystonia 9,Spasticity,Epilepsy,Optic Nerve Disease,Episodic Ataxia,Chronic Progressive External Ophthalmoplegia,Hereditary Spastic Paraplegia,Cerebellar Ataxia Type 41,Cerebellar Ataxia Type 48,Choreatic Disease,Sensorineural Hearing Loss,Spastic Paraparesis,Cerebellar Disease,Dystonia,Neuropathy,Early Myoclonic Encephalopathy,Spinocerebellar Ataxia 30,Spinocerebellar Ataxia, Autosomal Recessive 14,Myoclonus,Spinocerebellar Ataxia 29,Alacrima, Achalasia, And Mental Retardation Syndrome,Autosomal Dominant Cerebellar Ataxia,Disease Of Mental Health,Spinocerebellar Ataxia 28,Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy,Dentatorubral-Pallidoluysian Atrophy,Aceruloplasminemia,Optic Atrophy 5,Spinocerebellar Ataxia, Autosomal Recessive 8,Optic Atrophy 9,Spinocerebellar Ataxia 15,Perrault Syndrome,Spastic Ataxia 5, Autosomal Recessive,Spastic Ataxia 4,Spastic Ataxia 5,Hereditary Ataxia,Spastic Ataxia,Spastic Paraplegia 7, Autosomal Recessive,Spinocerebellar Ataxia 21,Spinocerebellar Ataxia 18,Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis,Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures,Ptosis,Optic Atrophy 12,Striatal Degeneration, Autosomal Dominant 2,Kearns-Sayre Syndrome,3-Methylglutaconic Aciduria, Type Iii

Alzheimer Disease,Cystic Fibrosis,Ehrlichiosis,Pheochromocytoma

Paraplegia,Spastic Paraplegia 42, Autosomal Dominant,Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy,Seizure Disorder,Spasticity,Optic Nerve Disease,Spinocerebellar Ataxia, Autosomal Recessive 24,Mitochondrial Myopathy,Spastic Paraplegia 50, Autosomal Recessive,Spinal Muscular Atrophy,Hereditary Spastic Paraplegia 30,Hereditary Spastic Paraplegia 51,Hereditary Spastic Paraplegia 72,Secondary Hyperparathyroidism,Spastic Paraplegia 17, Autosomal Dominant,Spastic Paraplegia 15, Autosomal Recessive,Proximal Spinal Muscular Atrophy,Chronic Progressive External Ophthalmoplegia,Spastic Paraplegia 5a, Autosomal Recessive,Spastic Paraplegia 56, Autosomal Recessive,Spastic Paraplegia 49, Autosomal Recessive,Spastic Paraplegia 54, Autosomal Recessive,Spastic Paraplegia 55, Autosomal Recessive,Hereditary Spastic Paraplegia,Motor Peripheral Neuropathy,Ocular Motility Disease,Complex Hereditary Spastic Paraplegia,Mitochondrial Complex Iii Deficiency, Nuclear Type 2,Optic Atrophy 3, Autosomal Dominant,Optic Atrophy 1,Spastic Paraparesis,Cerebellar Disease,Mitochondrial Disorders,Neuropathy,Cranial Nerve Disease,Spastic Paraplegia 20, Autosomal Recessive,Early Myoclonic Encephalopathy,Peripheral Nervous System Disease,Polyneuropathy,Spinocerebellar Ataxia, Autosomal Recessive 14,Spastic Paraplegia 28, Autosomal Recessive,Autosomal Dominant Cerebellar Ataxia,Hypoparathyroidism,Spastic Paraplegia 48, Autosomal Recessive,Spastic Paraplegia 8, Autosomal Dominant,Hutchinson-Gilford Progeria Syndrome,Disease Of Mental Health,Spinocerebellar Ataxia 28,Spastic Paraplegia 31, Autosomal Dominant,Spastic Paraplegia 16, X-Linked,Spastic Paraplegia 63, Autosomal Recessive,Spastic Paraplegia 10, Autosomal Dominant,Dentatorubral-Pallidoluysian Atrophy,Spastic Paraplegia 11, Autosomal Recessive,Optic Atrophy 5,Spastic Paraplegia 14, Autosomal Recessive,Spastic Paraplegia 3, Autosomal Dominant,Spastic Paraplegia 47, Autosomal Recessive,Spastic Paraplegia 4, Autosomal Dominant,Spastic Paraplegia 13, Autosomal Dominant,Spastic Paraplegia 18, Autosomal Recessive,Spastic Paraplegia 32, Autosomal Recessive,Primary Lateral Sclerosis, Adult, 1,Spastic Paraplegia 39, Autosomal Recessive,Optic Atrophy 9,Spastic Paraplegia 46, Autosomal Recessive,Spastic Paraplegia 35, Autosomal Recessive,Perrault Syndrome,Masa Syndrome,Spastic Ataxia 5,Autosomal Recessive Cerebellar Ataxia,Hereditary Ataxia,Spastic Ataxia,Spastic Paraplegia 7, Autosomal Recessive,Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis,Leber Hereditary Optic Neuropathy, Modifier Of,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Spastic Paraplegia 2, X-Linked,Familial Hypocalciuric Hypercalcemia,Behr Syndrome,Kearns-Sayre Syndrome,Spastic Paraplegia 6, Autosomal Dominant,3-Methylglutaconic Aciduria, Type Iii

Muscular Disease,Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia,Zellweger Syndrome,Supranuclear Palsy, Progressive, 1,Retinitis Pigmentosa,Myopathy,Myofibrillar Myopathy,Muscle Tissue Disease,Neuromuscular Disease,Alzheimer Disease,Nominal Aphasia,Amyotrophic Lateral Sclerosis 1,Myositis,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Early-Onset, Autosomal Dominant Alzheimer Disease,Amyotrophic Lateral Sclerosis 8,Lateral Sclerosis,Motor Neuron Disease,Autosomal Dominant Limb-Girdle Muscular Dystrophy,Muscular Dystrophy,Movement Disease,Progressive Non-Fluent Aphasia,Dyscalculia,Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1,Hereditary Spastic Paraplegia,Cystic Fibrosis,Machado-Joseph Disease,Spastic Paraplegia-Paget Disease Of Bone Syndrome,Adult-Onset Distal Myopathy Due To Vcp Mutation,Multisystem Proteinopathy,Dementia,Paget'S Disease Of Bone,Cockayne Syndrome,Alexia,Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1,Charcot-Marie-Tooth Disease,Parkinson Disease, Late-Onset,Perry Syndrome,Speech And Communication Disorders,Progressive Muscular Atrophy,Tooth Disease,Pick Disease Of Brain,Werner Syndrome,Autosomal Dominant Cerebellar Ataxia,Neuronal Ceroid Lipofuscinosis,Mammary Paget'S Disease,Breast Adenocarcinoma,Disease Of Mental Health,Dementia, Lewy Body,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6,Fanconi Anemia, Complementation Group G,Nonaka Myopathy,Alzheimer Disease 7,Amyotrophic Lateral Sclerosis 16, Juvenile,Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Aphasia,Writing Disorder,Inclusion Body Myositis,Associative Agnosia,Amyotrophic Lateral Sclerosis Type 6,Amyotrophic Lateral Sclerosis Type 14,Agraphia,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Frontotemporal Dementia,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Paraplegia,Chromosome 1q21.1 Duplication Syndrome,Dystonia 9,Spastic Paraplegia 42, Autosomal Dominant,Zellweger Syndrome,Seizure Disorder,Spasticity,Amyotrophic Lateral Sclerosis 1,Motor Neuron Disease,Hereditary Spastic Paraplegia 30,Hereditary Spastic Paraplegia 72,Spastic Paraplegia 17, Autosomal Dominant,Spastic Paraplegia 15, Autosomal Recessive,Spastic Paraplegia 5a, Autosomal Recessive,Spastic Paraplegia 56, Autosomal Recessive,Hereditary Spastic Paraplegia,Spastic Paraplegia 43, Autosomal Recessive,Pure Hereditary Spastic Paraplegia,Spastic Paraparesis,Spastic Paraplegia 4,Chromosome 17p13.3, Centromeric, Duplication Syndrome,Spastic Paraplegia 26, Autosomal Recessive,Spastic Paraplegia 20, Autosomal Recessive,Spastic Paraplegia 41, Autosomal Dominant,Spastic Diplegia,Spastic Paraplegia 48, Autosomal Recessive,Spastic Paraplegia 8, Autosomal Dominant,Disease Of Mental Health,Spastic Paraplegia 33, Autosomal Dominant,Spastic Paraplegia 31, Autosomal Dominant,Neuropathy, Hereditary Sensory, Type Id,Spastic Paraplegia 16, X-Linked,Spastic Paraplegia 61, Autosomal Recessive,Spastic Paraplegia 10, Autosomal Dominant,Spastic Paraplegia 11, Autosomal Recessive,Spastic Paraplegia 12, Autosomal Dominant,Spastic Paraplegia 14, Autosomal Recessive,Spastic Paraplegia 3, Autosomal Dominant,Spastic Paraplegia 47, Autosomal Recessive,Spastic Paraplegia 4, Autosomal Dominant,Spastic Paraplegia 13, Autosomal Dominant,Myopathy, Proximal, With Ophthalmoplegia,Spastic Paraplegia 39, Autosomal Recessive,Spastic Paraplegia 46, Autosomal Recessive,Masa Syndrome,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Spastic Paraplegia 2, X-Linked,Spastic Paraplegia 6, Autosomal Dominant