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Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Tests OMIM
Macrocephaly/Autism Syndrome Tests OMIM
Macular Corneal Dystrophy 1 Tests OMIM
Macular Dystrophy, Retinal, 2 Tests OMIM
Mainzer-Saldino Syndrome Tests OMIM
Majeed Syndrome Tests GeneReview OMIM
Mal de Meleda Tests OMIM
Male-Limited Precocious Puberty Tests OMIM
Malignant Hyperthermia Susceptibility GeneReview OMIM
CACNA1S-Related Malignant Hyperthermia Susceptibility Tests OMIM
MHS2-Related Malignant Hyperthermia Susceptibility Tests OMIM
MHS3-Related Malignant Hyperthermia Susceptibility Tests OMIM
MHS4-Related Malignant Hyperthermia Susceptibility Tests OMIM
MHS6-Related Malignant Hyperthermia Susceptibility OMIM
RYR1-Related Malignant Hyperthermia Susceptibility Tests OMIM
Malonyl-CoA Decarboxylase Deficiency Tests OMIM
Mandibuloacral Dysplasia Tests OMIM
Manitoba Oculotrichoanal Syndrome GeneReview OMIM
Mannose-Binding Protein Deficiency Tests OMIM
MAOA-Related Behavior Disorders Tests OMIM
Maple Syrup Urine Disease Tests GeneReview OMIM
Maple Syrup Urine Disease Type 1A Tests OMIM
Maple Syrup Urine Disease Type 1B Tests OMIM
Maple Syrup Urine Disease Type 2 Tests OMIM
Maple Syrup Urine Disease Type 3 Tests OMIM
MAPT-Related Disorders Tests GeneReview OMIM
Corticobasal Degeneration, MAPT-Related
Dementia with Epilepsy, MAPT-Related
Frontotemporal Dementia with Parkinsonism-17
Mild Late-Onset Parkinsonism, MAPT-Related
Progressive Supranuclear Palsy, MAPT-Related
Marfan Syndrome Tests GeneReview OMIM
Marfan Syndrome/ Loeys-Dietz Syndrome/ Familial Thoracic Aortic Aneurysms and Dissections Multi-Gene Panels Tests
Marinesco-Sjogren Syndrome Tests GeneReview OMIM
Marshall Syndrome Tests OMIM
Martsolf Syndrome Tests OMIM
MASP2 Deficiency Tests OMIM
MASS Syndrome Tests OMIM
Mast Cell Disease Tests OMIM
Mast Syndrome Tests OMIM
MASTL-Related Thrombocytopenia 2 Tests OMIM
Maternal Uniparental Disomy, Chromosome 14 Tests
Maturity-Onset Diabetes of the Young Multi-Gene Panels Tests
Maturity-Onset Diabetes of the Young Type 1 Tests OMIM
Maturity-Onset Diabetes of the Young Type 2 Tests OMIM
Maturity-Onset Diabetes of the Young Type 3 Tests OMIM
Maturity-Onset Diabetes of the Young Type 4 Tests OMIM
Maturity-Onset Diabetes of the Young Type 6 Tests OMIM
Maturity-Onset Diabetes of the Young Type 7 Tests OMIM
Maturity-Onset Diabetes of the Young Type 8, with Exocrine Dysfunction Tests OMIM
Maturity-Onset Diabetes of the Young Type 9 Tests OMIM
Maturity-Onset Diabetes of the Young Type10 Tests OMIM
Maturity-Onset Diabetes of the Young Type11 Tests OMIM
MAX-Related Susceptibility to Pheochromocytoma Tests OMIM
McCune-Albright Syndrome Tests OMIM
McKusick-Kaufman Syndrome Tests GeneReview OMIM
McLeod Neuroacanthocytosis Syndrome Tests GeneReview OMIM
MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency Tests GeneReview OMIM
Meacham Syndrome Tests OMIM
Meckel Syndrome OMIM
B9D1-Related Meckel Syndrome Tests OMIM
B9D2-Related Meckel Syndrome Tests OMIM
CC2D2A-Related Meckel Syndrome Tests OMIM
CEP290-Related Meckel Syndrome Tests OMIM
MKS1-Related Meckel Syndrome Tests OMIM
NPHP3-Related Meckel Syndrome Tests OMIM
RPGRIP1L-Related Meckel Syndrome Tests OMIM
TCTN2-Related Meckel Syndrome Tests OMIM
TMEM216-Related Meckel Syndrome Tests OMIM
TMEM67-Related Meckel Syndrome Tests OMIM
MECP2 Duplication Syndrome Tests GeneReview OMIM
MECP2-Related Angelman-like Syndrome Tests OMIM
MECP2-Related Disorders Tests GeneReview OMIM
Classic Rett Syndrome
MECP2-Related Severe Neonatal Encephalopathy OMIM
PPM-X Syndrome
MED12-Related Disorders Tests GeneReview OMIM
FG Syndrome Type 1 OMIM
Lujan Syndrome OMIM
Medium Chain 3-Ketothiolase Deficiency Tests OMIM
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency GeneReview OMIM
Medulloblastoma, SUFU-Related Tests OMIM
Megalencephalic Leukoencephalopathy with Subcortical Cysts GeneReview OMIM
HEPACAM-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts Tests OMIM
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A OMIM
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2B, Remitting, with or without Mental Retardation OMIM
MLC1-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts Tests OMIM
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 OMIM
Megaloblastic Anemia 1 Tests OMIM
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency Tests OMIM
Meier-Gorlin Syndrome 1 Tests OMIM
Meier-Gorlin Syndrome 2 Tests OMIM
Meier-Gorlin Syndrome 3 Tests OMIM
Meier-Gorlin Syndrome 4 Tests OMIM
Meier-Gorlin Syndrome 5 Tests OMIM
Melanoma-Astrocytoma Syndrome Tests OMIM
Melanoma-Pancreatic Cancer Syndrome Tests OMIM
Mental Retardation
Mental Retardation with Language Impairment and Autistic Features Tests OMIM
Mental Retardation, Autosomal Dominant 1 Tests OMIM
Mental Retardation, Autosomal Dominant 13 Tests OMIM
Mental Retardation, Autosomal Dominant 5 Tests OMIM
Mental Retardation, Autosomal Dominant 6 Tests OMIM
Mental Retardation, Autosomal Dominant 9 Tests OMIM
Mental Retardation, Autosomal Recessive 1 Tests OMIM
Mental Retardation, Autosomal Recessive 13 Tests OMIM
Mental Retardation, Autosomal Recessive 2 Tests OMIM
Mental Retardation, Autosomal Recessive 5 Tests OMIM
Mental Retardation, Autosomal Recessive 6 Tests OMIM
Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations Tests OMIM
Mental Retardation, X-linked, Syndromic 14 Tests OMIM
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type Tests OMIM
Mental Retardation, X-Linked, Syndromic, Nascimento Type Tests OMIM
Mental Retardation, X-Linked, Syndromic, Raymond Type Tests OMIM
Mental Retardation, X-Linked, Syndromic, Turner Type Tests OMIM
Mental Retardation, X-Linked, with Growth Hormone Deficiency Tests OMIM
Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor Tests OMIM
Mental Retardation-Hypotonic Facies Syndrome, X-Linked Tests OMIM
Mesomelic Dysplasia, Kozlowski-Reardon Type
Mesomelic Dysplasia, Nievergelt Type OMIM
Mesomelic Dysplasia, Reinhardt-Pfeiffer Type OMIM
Mesomelic Dysplasia, Werner Type
Metachondromatosis Tests OMIM
Metachromatic Leukodystrophy due to Saposin B Deficiency Tests OMIM
Metaphyseal Anadysplasia 1 Tests OMIM
Metaphyseal Anadysplasia 2 Tests OMIM
Metaphyseal Chondrodysplasia, Jansen Type Tests OMIM
Metaphyseal Chondrodysplasia, Schmid Type Tests OMIM
Metatropic Dysplasia Tests OMIM
Methemoglobinemia Due to Deficiency of Methemoglobin Reductase Tests OMIM
Methylmalonate Semialdehyde Dehydrogenase Deficiency Tests OMIM
Methylmalonic Acidemia Tests GeneReview OMIM
MCEE-Related Methylmalonic Acidemia Tests OMIM
MMAA-Related Methylmalonic Acidemia Tests OMIM
MMAB-Related Methylmalonic Acidemia Tests OMIM
MMADHC-Related Methylmalonic Acidemia Tests OMIM
MUT-Related Methylmalonic Acidemia Tests OMIM
Mevalonicaciduria Tests OMIM
MHC Class II Deficiency, Complementation Group B Tests OMIM
Microcephalic Osteodysplastic Primordial Dwarfism, Type I Tests OMIM
Microcephalic Osteodysplastic Primordial Dwarfism, Type II Tests OMIM
Microcephaly, Cortical Malformations, and Mental Retardation Tests OMIM
Microcephaly, Epilepsy, and Diabetes Syndrome Tests OMIM
Microcephaly-Capillary Malformation Syndrome Tests OMIM
Microlissencephaly
Microlissencephaly I
Microlissencephaly II
Microlissencephaly III
Microphthalmia with Linear Skin Defects Syndrome Tests GeneReview OMIM
Microtia, Hearing Impairment, and Cleft Palate Tests OMIM
Milroy Disease Tests GeneReview OMIM
Mitochondrial Cardiomyopathy Tests OMIM
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 Tests OMIM
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 Tests OMIM
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 Tests OMIM
Mitochondrial Disorders Tests GeneReview OMIM
Chorea and Dementia OMIM
Diabetes and Hearing Loss Tests OMIM
Infantile Myopathy and Lactic Acidosis (Fatal and Non-Fatal Forms) Tests OMIM
Leber Hereditary Optic Neuropathy Tests GeneReview OMIM
MELAS Tests GeneReview OMIM
MELAS, MT-ND1-Related Tests OMIM
MELAS, MT-ND5-Related Tests OMIM
MELAS, MT-ND6-Related Tests OMIM
MELAS, MT-TF-Related Tests OMIM
MELAS, MT-TK-Related Tests OMIM
MELAS, MT-TL1-Related Tests OMIM
MELAS, MT-TQ-Related Tests OMIM
MELAS, MT-TS1-Related Tests OMIM
MELAS, MT-TS2-Related Tests OMIM
MERRF Tests GeneReview OMIM
MERRF/MELAS Overlap Syndrome Tests OMIM
Mitochondrial DNA Deletion Syndromes Tests GeneReview OMIM
Kearns-Sayre Syndrome
Leigh Syndrome (mtDNA deletion)
Pearson Syndrome
Progressive External Ophthalmoplegia
Mitochondrial DNA-Associated Leigh Syndrome and NARP Tests GeneReview OMIM
Leigh Syndrome (mtDNA mutation)
Leigh-Like Syndrome
NARP
Mitochondrial Myopathy with Diabetes Tests OMIM
Nonsyndromic Hearing Loss and Deafness, Mitochondrial GeneReview OMIM
Mitochondrial Disorders Multi-Gene Panels (Mitochondrial Genes) Tests
Mitochondrial Disorders Multi-Gene Panels (Nuclear Genes) Tests
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form OMIM
RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy Tests OMIM
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria Tests GeneReview OMIM
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria Tests OMIM
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form OMIM
C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form Tests OMIM
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form Tests GeneReview OMIM
MPV17- Related Hepatocerebral Mitochondrial DNA Depletion Syndrome Tests GeneReview OMIM
Navajo Neurohepatopathy
Mitochondrial DNA Depletion Syndrome, MNGIE Form OMIM
POLG-Related Mitochondrial DNA Depletion Syndrome, MNGIE Form Tests OMIM
Mitochondrial DNA Depletion Syndrome, Myopathic Form OMIM
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form Tests GeneReview OMIM
Mitochondrial Neurogastrointestinal Encephalopathy Disease Tests GeneReview OMIM
Mitochondrial Phosphate Carrier Deficiency Tests OMIM
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay Tests OMIM
Mitochondrial Respiratory Chain Complex I Deficiency Tests OMIM
Mitochondrial Respiratory Chain Complex I Deficiency (Mitochondrial Genes) Tests OMIM
Mitochondrial Respiratory Chain Complex I Deficiency (Nuclear Genes) Tests OMIM
Mitochondrial Respiratory Chain Complex II Deficiency Tests OMIM
Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Related Tests OMIM
Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-Related Tests OMIM
Mitochondrial Respiratory Chain Complex III Deficiency Tests OMIM
Mitochondrial Respiratory Chain Complex III Deficiency, BCS1L-Related Tests OMIM
Mitochondrial Respiratory Chain Complex III Deficiency, TTC19-Related Tests OMIM
Mitochondrial Respiratory Chain Complex III Deficiency, UQCRB-Related Tests OMIM
Mitochondrial Respiratory Chain Complex III Deficiency, UQCRQ Related Tests OMIM
Mitochondrial Respiratory Chain Complex III, Cytochrome b Subunit Tests OMIM
Mitochondrial Respiratory Chain Complex IV Deficiency Tests OMIM
Mitochondrial Respiratory Chain Complex IV Deficiency (Mitochondrial Genes) Tests OMIM
Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes) Tests OMIM
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency Tests OMIM
Molybdenum Cofactor Deficiency Tests OMIM
Monilethrix Tests OMIM
Monogenic Non-Syndromic Obesity, Autosomal Recessive OMIM
Leptin Deficiency Tests OMIM
Leptin Receptor Deficiency Tests OMIM
Proopiomelanocortin Deficiency Tests OMIM
Proprotein Convertase-1 Deficiency Tests OMIM
Mononeuropathy of the Median Nerve, Mild Tests OMIM
Mowat-Wilson Syndrome Tests GeneReview OMIM
Moyamoya Disease 5 Tests OMIM
MSX2-Related Craniosynostosis Tests OMIM
MT-CYB-Related Recurrent Myoglobinuria Tests OMIM
MTHFR Deficiency Tests OMIM
Muckle-Wells Syndrome Tests OMIM
Mucolipidosis I Tests OMIM
Mucolipidosis III Gamma Tests GeneReview OMIM
Mucolipidosis IV Tests GeneReview OMIM
Mucopolysaccharidosis Type I Tests GeneReview OMIM
Hurler Syndrome
Hurler-Scheie Syndrome
Scheie Syndrome
Mucopolysaccharidosis Type II Tests GeneReview OMIM
Mucopolysaccharidosis Type IIIA Tests OMIM
Mucopolysaccharidosis Type IIIB Tests OMIM
Mucopolysaccharidosis Type IIIC Tests OMIM
Mucopolysaccharidosis Type IIID Tests OMIM
Mucopolysaccharidosis Type IVA Tests GeneReview OMIM
Mucopolysaccharidosis Type IX Tests OMIM
Mucopolysaccharidosis Type VI Tests OMIM
Mucopolysaccharidosis Type VII Tests OMIM
Mulibrey Nanism Tests OMIM
Mullerian Aplasia and Hyperandrogenism Tests OMIM
Multicentric Carpotarsal Osteolysis Syndrome Tests OMIM
Multicentric Osteolysis of Torg Tests OMIM
Multicentric Osteolysis, Nodulosis, and Arthropathy Tests OMIM
Multiminicore Disease GeneReview OMIM
RYR1-Related Multiminicore Disease Tests OMIM
SEPN1-Related Multiminicore Disease Tests OMIM
Multiple Acyl-CoA Dehydrogenase Deficiency Tests OMIM
Multiple Cutaneous and Mucosal Venous Malformations Tests GeneReview OMIM
Multiple Endocrine Neoplasia Type 1 Tests GeneReview OMIM
Multiple Endocrine Neoplasia Type 2 Tests GeneReview OMIM
Familial Medullary Thyroid Carcinoma
Multiple Endocrine Neoplasia Type 2A
Multiple Endocrine Neoplasia Type 2B
Multiple Endocrine Neoplasia Type 4 Tests OMIM
Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus Tests OMIM
Multiple Epiphyseal Dysplasia, Dominant GeneReview OMIM
COL9A1-Related Multiple Epiphyseal Dysplasia Tests OMIM
COL9A2-Related Multiple Epiphyseal Dysplasia Tests OMIM
COL9A3-Related Multiple Epiphyseal Dysplasia Tests OMIM
COMP-Related Multiple Epiphyseal Dysplasia Tests OMIM
MATN3-Related Multiple Epiphyseal Dysplasia Tests OMIM
Multiple Familial Trichoepithelioma 1 Tests OMIM
Multiple Mitochondrial Dysfunctions Syndrome 1 Tests OMIM
Multiple Mitochondrial Dysfunctions Syndrome 2 Tests OMIM
Multiple Sclerosis GeneReview OMIM
Multiple Sulfatase Deficiency Tests OMIM
Multiple Synostoses Syndrome 1 Tests OMIM
Multiple Synostoses Syndrome 2 Tests OMIM
Multiple Synostoses Syndrome 3 Tests OMIM
Multisystemic Smooth Muscle Dysfunction Syndrome Tests OMIM
MUTYH-Associated Polyposis Tests GeneReview OMIM
Myasthenia, Limb-Girdle, with Tubular Aggregates Tests OMIM
Myelodysplastic Syndrome, Susceptibility, GATA2-Related Tests OMIM
MYH7-Related Myosin Storage Myopathy Tests OMIM
MYH9-Related Disorders Tests GeneReview OMIM
Epstein Syndrome OMIM
Fechtner Syndrome OMIM
May-Hegglin Anomaly OMIM
Sebastian Syndrome OMIM
Myhre Syndrome Tests OMIM
Myoadenylate Deaminase Deficiency Tests OMIM
Myocardial Infarction, Susceptibility to, 1 Tests OMIM
Myoclonus-Dystonia Tests GeneReview OMIM
Myofibrillar Myopathy GeneReview OMIM
Alpha-B Crystallinopathy Tests OMIM
BAG3-Related Myofibrillar Myopathy Tests OMIM
Desminopathy Tests OMIM
DNAJB6-Related Myofibrillar Myopathy OMIM
FHL1-Related Myofibrillar Myopathy Tests OMIM
Filaminopathy Tests OMIM
Myotilinopathy Tests OMIM
Zaspopathy Tests OMIM
Myoglobinuria, Acute Recurrent, Autosomal Recessive Tests OMIM
Myokymia 1 with or without Hypomagnesemia Tests OMIM
Myopathy with Deficiency of ISCU Tests GeneReview OMIM
Myopathy with Postural Muscle Atrophy, X-Linked Tests OMIM
Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia Tests OMIM
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 Tests OMIM
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 Tests OMIM
Myosclerosis, Autosomal Recessive Tests OMIM
Myostatin-Related Muscle Hypertrophy Tests GeneReview OMIM
Myotonia Congenita Tests GeneReview OMIM
Myotonia Congenita, Autosomal Dominant OMIM
Myotonia Congenita, Autosomal Recessive OMIM
Myotonia, Potassium-Aggravated Tests OMIM
Myotonic Dystrophy Type 1 Tests GeneReview OMIM
Myotonic Dystrophy Type 2 Tests GeneReview OMIM
Nablus Mask-Like Facial Syndrome Tests OMIM
Nager Syndrome Tests OMIM
Nail-Patella Syndrome Tests GeneReview OMIM
Nance-Horan Syndrome Tests OMIM
Narcolepsy Risk Factor Tests OMIM
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect Tests OMIM
Naxos Disease Tests OMIM
NDP-Related Retinopathies Tests GeneReview OMIM
Coats disease OMIM
NDP-Related Retinopathy of Prematurity
Norrie Disease OMIM
Persistent Hyperplastic Primary Vitreous
X-Linked Familial Exudative Vitreoretinopathy OMIM
Nemaline Myopathy GeneReview OMIM
ACTA1-Related Nemaline Myopathy Tests OMIM
CFL2-Related Nemaline Myopathy Tests OMIM
KBTBD13-Related Nemaline Myopathy Tests OMIM
NEB-Related Nemaline Myopathy Tests OMIM
TNNT1-Related Nemaline Myopathy Tests OMIM
TPM2-Related Nemaline Myopathy Tests OMIM
TPM3-Related Nemaline Myopathy Tests OMIM
Neonatal Diabetes Multi-Gene Panels Tests
Nephrogenic Diabetes Insipidus GeneReview OMIM
Nephrogenic Diabetes Insipidus, Autosomal Tests OMIM
Nephrogenic Diabetes Insipidus, X-Linked Tests OMIM
Nephrogenic Syndrome of Inappropriate Antidiuresis Tests OMIM
Nephronophthisis
Nephronophthisis 1 Tests OMIM
Nephronophthisis 2 Tests OMIM
Nephronophthisis 3 Tests OMIM
Nephronophthisis 4 Tests OMIM
Nephronophthisis 7 Tests OMIM
Nephronophthisis 8 Tests OMIM
Nephronophthisis 9 Tests OMIM
Nephronophthisis11 Tests OMIM
Nephronophthisis-Like Nephropathy 1 Tests OMIM
Nephrotic Syndrome Type 3 Tests OMIM
Nephrotic Syndrome, Type 5, with or without Ocular Abnormalities Tests OMIM
Nestor-Guillermo Progeria Syndrome Tests OMIM
Netherton Syndrome Tests OMIM
Neuroblastoma, Susceptibility OMIM
ALK-Related Neuroblastoma Susceptibility Tests GeneReview OMIM
KIF1B-Related Neuroblastoma, Susceptibility Tests OMIM
PHOX2B-Related Neuroblastoma, Susceptibility Tests OMIM
Neurodegeneration due to Cerebral Folate Transport Deficiency Tests OMIM
Neurodegeneration with Brain Iron Accumulation GeneReview
Aceruloplasminemia Tests GeneReview OMIM
Beta-Propeller Protein-Associated Neurodegeneration Tests OMIM
Fatty Acid Hydroxylase-Associated Neurodegeneration Tests GeneReview OMIM
Dysmyelinating Leukodystrophy and Spastic Paraparesis with or without Dystonia OMIM
Spastic Paraplegia 35 OMIM
Kufor-Rakeb Syndrome Tests OMIM
Mitochondrial Membrane Protein-Associated Neurodegeneration Tests OMIM
Neuroferritinopathy Tests GeneReview OMIM
Pantothenate Kinase-Associated Neurodegeneration Tests GeneReview OMIM
HARP Syndrome OMIM
PLA2G6-Associated Neurodegeneration Tests GeneReview OMIM
Atypical Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
PLA2G6-Related Dystonia-Parkinsonism
Woodhouse-Sakati Syndrome Tests OMIM
Neurodegeneration with Brain Iron Accumulation Multi-Gene Panels Tests
Neurofibromatosis 1 Tests GeneReview OMIM
Neurofibromatosis 2 Tests GeneReview OMIM
Neurofibromatosis-Noonan Syndrome Tests OMIM
Neurogenic Scapuloperoneal Syndrome , Kaeser Type Tests OMIM
Neurohypophyseal Diabetes Insipidus Tests OMIM
Neuromyotonia and Axonal Neuropathy, Autosomal Recessive Tests OMIM
Neuronal Ceroid-Lipofuscinoses GeneReview OMIM
ATP13A2-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
CLN3-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
Neuronal Ceroid-Lipofuscinosis, Adult
Neuronal Ceroid-Lipofuscinosis, Juvenile OMIM
CLN5-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
Neuronal Ceroid-Lipofuscinosis, Finnish Variant OMIM
CLN6-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
Neuronal Ceroid-Lipofuscinosis, Gypsy/Indian, Early Juvenile Variant OMIM
CLN8-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
Northern Epilepsy OMIM
CLN9-Related Neuronal Ceroid-Lipofuscinosis OMIM
CTSD-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
CTSF-Related Neuronal Ceroid-Lipofuscinosis OMIM
DNAJC5-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
GRN-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
KCTD7-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
MFSD8-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
PPT1-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
Neuronal Ceroid-Lipofuscinosis, Adult
Neuronal Ceroid-Lipofuscinosis, Classic Late Infantile OMIM
Neuronal Ceroid-Lipofuscinosis, Infantile OMIM
Neuronal Ceroid-Lipofuscinosis, Juvenile OMIM
TPP1-Related Neuronal Ceroid-Lipofuscinosis Tests OMIM
Neuronal Ceroid-Lipofuscinosis, Classic Late Infantile OMIM
Neuronal Ceroid-Lipofuscinosis, Juvenile OMIM
Neuronal Ceroid-Lipofuscinoses Multi-Gene Panels Tests
Neutral Lipid Storage Disease with Myopathy Tests OMIM
Neutrophilia, Hereditary Tests OMIM
Nevoid Basal Cell Carcinoma Syndrome Tests GeneReview OMIM
Newfoundland Rod-Cone Dystrophy Tests OMIM
Nicolaides-Baraitser Syndrome Tests OMIM
Niemann-Pick Disease Type C Tests GeneReview OMIM
Niemann-Pick Disease Type C1 Tests OMIM
Niemann-Pick Disease Type C2 Tests OMIM
Nijmegen Breakage Syndrome Tests GeneReview OMIM
NKX2-1-Related Disorders Tests OMIM
Benign Hereditary Chorea OMIM
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress OMIM
NLGN4-Related X-Linked Mental Retardation Tests OMIM
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant GeneReview OMIM
CHRNA2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant Tests OMIM
CHRNA4-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant Tests OMIM
CHRNB2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant Tests OMIM
CRH-Related Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant OMIM
Non-Classic Cystic Fibrosis-Like Syndrome Tests OMIM
Nonepidermolytic Palmoplantar Hyperkeratosis Tests OMIM
Nonsyndromic Hydrocephalus, CCDC88C-Related Tests OMIM
Noonan Syndrome GeneReview OMIM
BRAF-Related Noonan Syndrome Tests OMIM
KRAS-Related Noonan Syndrome Tests OMIM
MAP2K1-Related Noonan Syndrome Tests OMIM
NRAS-Related Noonan Syndrome Tests OMIM
PTPN11-Related Noonan Syndrome Tests OMIM
RAF1-Related Noonan Syndrome Tests OMIM
SOS1-Related Noonan Syndrome Tests OMIM
Noonan-Like Syndrome Disorder with or without Juvenile Myelomonocytic Leukemia Tests OMIM
Noonan-Like Syndrome with Loose Anagen Hair Tests OMIM
Noonan/ Costello/ LEOPARD/ Cardiofaciocutaneous Syndrome(s) (RAS/MAPK Pathway) Multi-Gene Panels Tests
Normokalemic Periodic Paralysis, Potassium-Sensitive Tests OMIM
North American Indian Childhood Cirrhosis Tests OMIM
NPM1-Related Acute Myeloid Leukemia Tests OMIM
NSDHL-Related Disorders Tests GeneReview OMIM
CHILD Syndrome OMIM
CK Syndrome OMIM
NTRK1-Related Familial Medullary Thyroid Carcinoma Tests OMIM