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N-acetylglutamate synthase deficiency
N-acetylneuraminic acid storage disease
see
sialic acid storage disease
NAGS deficiency
see
N-acetylglutamate synthase deficiency
Nail Diseases
see
nail-patella syndrome
nail-patella syndrome
Naito-Oyanagi disease
see
dentatorubral-pallidoluysian atrophy
NANA storage disease
see
sialic acid storage disease
Nance-Insley syndrome
see
otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia
see
otospondylomegaepiphyseal dysplasia
NARP
see
neuropathy, ataxia, and retinitis pigmentosa
Nasu-Hakola disease
see
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NBCCS
see
Gorlin syndrome
NBIA, PLA2G6-related
see
infantile neuroaxonal dystrophy
NBIA1
see
pantothenate kinase-associated neurodegeneration
neonatal onset multisystem inflammatory disease
Neonatal osseous dysplasia 1
see
atelosteogenesis type 2
Neuroacanthocytosis
see
chorea-acanthocytosis
Neuroaxonal Dystrophy, Juvenile
see
infantile neuroaxonal dystrophy
Neuroaxonal dystrophy, juvenile-onset
see
pantothenate kinase-associated neurodegeneration
Neuroaxonal Dystrophy, Late Infantile
see
infantile neuroaxonal dystrophy
Neuroblastoma, retinal
see
retinoblastoma
Neurodegeneration with brain iron accumulation, PLA2G6-related
see
infantile neuroaxonal dystrophy
Neurodegeneration with Brain Iron Accumulation Type 1
see
pantothenate kinase-associated neurodegeneration
neuroferritinopathy
Neurofibromatosis
neurofibromatosis type 1
neurofibromatosis type 2
neurogenic muscle weakness, ataxia, and retinitis pigmentosa
see
neuropathy, ataxia, and retinitis pigmentosa
Neurologic Diseases
Neuromuscular Disorders
Neuronal Cholesterol Lipidosis
see
Niemann-Pick disease
neuronopathy, distal hereditary motor, type V
see
distal hereditary motor neuropathy, type V
neuropathy, ataxia, and retinitis pigmentosa
neuropathy, giant axonal
see
giant axonal neuropathy
neutral 17-beta-hydroxysteroid oxidoreductase deficiency
see
17-beta hydroxysteroid dehydrogenase 3 deficiency
neutral lipid storage disease with ichthyosis
see
Chanarin-Dorfman syndrome
neutral lipid storage disease with myopathy
Nevoid Basal Cell Carcinoma Syndrome
see
Gorlin syndrome
Newborn Screening
NF1
see
neurofibromatosis type 1
NF2
see
neurofibromatosis type 2
NHD
see
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Niemann-Pick disease
NKH
see
glycine encephalopathy
NLSDM
see
neutral lipid storage disease with myopathy
Noack syndrome
see
Pfeiffer syndrome
NOD
see
dentatorubral-pallidoluysian atrophy
NOMID
see
neonatal onset multisystem inflammatory disease
non-ketotic hyperglycinemia
see
glycine encephalopathy
Non-Phenylketonuric Hyperphenylalaninemia
see
tetrahydrobiopterin deficiency
Nonaka myopathy
see
inclusion body myopathy 2
Nonketotic Hyperglycinemia
see
glycine encephalopathy
nonkinesigenic choreoathetosis
see
familial paroxysmal nonkinesigenic dyskinesia
Nonne-Milroy lymphedema
see
Milroy disease
nonsyndromic deafness
Noonan syndrome
noradrenaline deficiency
see
dopamine beta-hydroxylase deficiency
norepinephrine deficiency
see
dopamine beta-hydroxylase deficiency
Norio syndrome
see
Cohen syndrome
Norrie disease
NPD
see
Niemann-Pick disease
Published: January 23, 2009