Zellweger Syndrome,Bardet-Biedl Syndrome

Paraplegia,Neuromuscular Disease,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Axonal Neuropathy,Lateral Sclerosis,Myoclonus, Intractable, Neonatal,Hereditary Spastic Paraplegia 30,Spastic Paraplegia 17, Autosomal Dominant,Spastic Paraplegia 15, Autosomal Recessive,Spastic Paraplegia 5a, Autosomal Recessive,Hereditary Spastic Paraplegia,Motor Peripheral Neuropathy,Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Kif5a Mutation,Pure Hereditary Spastic Paraplegia,Spastic Paraplegia 10,Asbestosis,Neuropathy,Charcot-Marie-Tooth Disease,Spastic Paraplegia 41, Autosomal Dominant,Myoclonus,Spastic Paraplegia 8, Autosomal Dominant,Amyotrophic Lateral Sclerosis 25,Spastic Paraplegia 31, Autosomal Dominant,Spastic Paraplegia 57, Autosomal Recessive,Neuropathy, Hereditary Sensory, Type Id,Spastic Paraplegia 10, Autosomal Dominant,Spastic Paraplegia 12, Autosomal Dominant,Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive,Spastic Paraplegia 4, Autosomal Dominant,Spastic Paraplegia 13, Autosomal Dominant,Spastic Paraplegia 18, Autosomal Recessive,Primary Progressive Multiple Sclerosis,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4,Masa Syndrome,Neuronopathy, Distal Hereditary Motor, Type Viib,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Charcot-Marie-Tooth Disease, Axonal, Type 2k,Spastic Paraplegia 2, X-Linked,Frontotemporal Dementia,Spastic Paraplegia 6, Autosomal Dominant,3-Methylglutaconic Aciduria, Type Iii

Cholestasis, Intrahepatic, Of Pregnancy, 1

Thyroid Gland Cancer,Occipital Lobe Neoplasm,Lung Non-Squamous Non-Small Cell Carcinoma,Bardet-Biedl Syndrome,Pulmonary Large Cell Neuroendocrine Carcinoma,Alzheimer Disease,Adenosquamous Lung Carcinoma,Noonan Syndrome 1,Cerebral Degeneration,Large Cell Neuroendocrine Carcinoma,Attention Deficit-Hyperactivity Disorder,Lung Cancer

Retinitis Pigmentosa,Bardet-Biedl Syndrome,Primary Ciliary Dyskinesia,Nephronophthisis,Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease,Fundus Dystrophy,Oligospermia,Kartagener Syndrome,Visceral Heterotaxy,Myasthenic Syndrome, Congenital, 16,Asphyxiating Thoracic Dystrophy,Meckel Syndrome, Type 1,Retinitis Pigmentosa 89,Joubert Syndrome 1

Asbestosis,Goldberg-Shprintzen Syndrome

Microcephaly, Autosomal Dominant,Retinitis Pigmentosa,Congenital Lymphedema,Alzheimer Disease,Retinal Ciliopathy,Vitreoretinopathy,Syndromic Rod-Cone Dystrophy,Fundus Dystrophy,Microphthalmia,Microcephaly,Astigmatism,Exudative Vitreoretinopathy,Norrie Disease,Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation,Hereditary Lymphedema I,Primary Autosomal Recessive Microcephaly

Spondyloepimetaphyseal Dysplasia,Spondyloepimetaphyseal Dysplasia With Joint Laxity,Spondyloepimetaphyseal Dysplasia With Multiple Dislocations,Acute Contagious Conjunctivitis,Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2,Odontochondrodysplasia,Scoliosis

Paraplegia,Hemophagocytic Lymphohistiocytosis, Familial, 1,Autonomic Neuropathy,Spasticity,Axonal Neuropathy,Neuropathy, Hereditary Sensory And Autonomic, Type V,Hereditary Spastic Paraplegia 30,Charcot-Marie-Tooth Disease, Axonal, Type 2q,Autosomal Recessive Hereditary Sensory And Autonomic Neuropathy,Hereditary Spastic Paraplegia,Motor Peripheral Neuropathy,Dandy-Walker Syndrome,Neuropathy, Hereditary Sensory And Autonomic, Type Iib,Spastic Paraparesis,Dystonia,Diaphragmatic Eventration,Peho-Like Syndrome,Neuropathy,Charcot-Marie-Tooth Disease,Tukel Syndrome,Goldberg-Shprintzen Syndrome,Epiphyseal Dysplasia, Multiple, 4,Disease Of Mental Health,Spastic Paraplegia 57, Autosomal Recessive,Spastic Paraplegia 30, Autosomal Dominant,Spastic Paraplegia 10, Autosomal Dominant,Spastic Paraplegia 4, Autosomal Dominant,Hereditary Sensory Neuropathy,Neuropathy, Hereditary Sensory, Type Iic,Nescav Syndrome,Masa Syndrome,Spastic Ataxia 2,Spastic Ataxia,Autism Spectrum Disorder,Neuropathy, Hereditary Sensory And Autonomic, Type Iia,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Laryngomalacia,Autosomal Dominant Non-Syndromic Intellectual Disability,Charcot-Marie-Tooth Disease, Axonal, Type 2k,Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation,Autism,Joubert Syndrome 1,Peho Syndrome

21q22.11q22.12 Microdeletion Syndrome,Breast Cancer

Mosaic Variegated Aneuploidy Syndrome,Cortical Dysplasia, Complex, With Other Brain Malformations 3,Microcephaly,Periventricular Nodular Heterotopia,Walker-Warburg Syndrome,Primary Autosomal Recessive Microcephaly,Band Heterotopia