Disorders: N

Disorders Alternate Names Genes Inheritance Pattern
Nance-Horan Syndrome cataract-dental syndrome, mesiodens-cataract syndrome, X-linked cataract with Hutchinson teeth NHS X-linked dominant, X-linked recessive
Nanophthalmos 1 NNO1 11p locus autosomal dominant
Nanophthalmos 2 NNO2 MFRP autosomal dominant, autosomal recessive
Nanophthalmos 3 nanophthalmia 3, NNO3 2q11-q14 locus autosomal dominant
Nanophthalmos AD NNOAD TMEM98 autosomal dominant
Nanophthalmos Plus Syndrome MFRP autosomal recessive
Nanophthalmos with Retinitis Pigmentosa CRB1 autosomal recessive
Nanophthalmos with Retinopathy ? autosomal recessive
Nemaline Myopathy 10 NEM10 LMOD3 autosomal recessive
Neu-Laxova Syndrome 1 NLS, NLS1 PHGDH autosomal recessive
Neu-Laxova Syndrome 2 NLS, NLS2 PSAT1 autosomal recessive
Neuhauser Syndrome megalocornea-mental retardation syndrome, MMR syndrome ? autosomal recessive
Neuraminidase Deficiency ML 1, mucolipidosis I, myoclonus-cherry red spot syndrome, NEU1 deficiency, sialidosis type I, sialidosis type II NEU1 autosomal recessive
Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset NADGP SQSTM1 autosomal recessive
Neurodegeneration with Brain Iron Accumulation Hallervorden-Spatz disease, INAD, INAD1, infantile neuroaxonal dystrophy, Karak syndrome, NBIA2A, NBIA2B, NBIA3, Seitelberger disease FTL, PLA2G6 autosomal recessive
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies NDMSBA PLAA autosomal recessive
Neurofibromatosis Type I peripheral neurofibromatosis, von Recklinghausen disease NF1 autosomal dominant
Neurofibromatosis Type II ACN, acoustic neurinoma, acoustic schwannoma, central neurofibromatosis NF2 autosomal dominant
Neuronal Ceroid Lipofuscinoses Batten disease, NCL, neuronal ceroid lipofuscinosis, Vogt-Spielmeyer disease ATP13A2, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN9, CTSD, MFSD8, PPT1, TPP1 autosomal dominant, autosomal recessive
Neuropathy, Ataxia, and Retinitis Pigmentosa NARP syndrome MTATP6 mitochondrial
Niemann-Pick Disease, Type C2 NPC2 NPC2 autosomal recessive
Niemann-Pick Disease, Types A and B sphingomyelin lipodosis, sphingomyelinase deficiency SMPD1 autosomal recessive
Niemann-Pick Disease, Types C1 (D) Niemann-Pick disease chronic neuronopathic form, Niemann-Pick disease Nova Scotian type, Niemann-Pick disease with cholesterol esterification block, NPC NPC1 autosomal recessive
Night Blindness, Congenital Stationary, CSNB1A CSNB1A, NBM1, night blindness with myopia, X-linked CSNB NYX X-linked recessive
Night Blindness, Congenital Stationary, CSNB1B CSNB, CSNB1B, type 1B night blindness GRM6 autosomal recessive
Night Blindness, Congenital Stationary, CSNB1C CSNB, CSNB1C, type 1C night blindness with myopia TRPM1 autosomal recessive
Night Blindness, Congenital Stationary, CSNB1E CSNB1E GPR179 autosomal recessive
Night Blindness, Congenital Stationary, CSNB1H CSNB1H GNB3 autosomal recessive
Night Blindness, Congenital Stationary, CSNB2A CSNB2, CSNB2A, type 2A night blindness with myopia, X-linked CSNB CACNA1F X-linked recessive
Night Blindness, Congenital Stationary, CSNB2B CSNB, CSNB2B, type 2B night blindness with myopia CABP4 autosomal recessive
Night Blindness, Congenital Stationary, CSNBAD1 CSNB, CSNBAD1, type AD1 night blindness RHO autosomal dominant
Night Blindness, Congenital Stationary, CSNBAD2 CSNB, CSNBAD2, Rambusch type congenital stationary night blindness, type AD2 night blindness PDE6B autosomal dominant
Night Blindness, Congenital Stationary, CSNBAD3 CSNB, CSNB1G, CSNBAD3, Nougaret type congenital stationary night blindness, type AD3 night blindness GNAT1 autosomal dominant
Noonan Syndrome female pseudo-Turner syndrome, male Turner syndrome, NS1, NS2, NS3, NS4, NS5, NS6, NS7 BRAF, KRAS, MEK1, NRAS, PTPN11, RAF1, SOS1 autosomal dominant
Norrie Disease atrophia bulborum hereditaria, Episkopi blindness, ND NDP X-linked recessive
Nystagmus 1, Congenital, X-linked congenital motor nystagmus 1, idiopathic infantile nystagmus, infantile nystagmus, NYS1, nystagmus 1 FRMD7 X-linked recessive
Nystagmus 2, Congenital, AD NYS2, nystagmus congenital motor 2 ? autosomal dominant
Nystagmus 3, Congenital, AD NYS3 ? autosomal dominant
Nystagmus 4, AD NYS4, vestibulocerebellar disorder with ocular signs ? autosomal dominant?
Nystagmus 5, Congenital, X-linked NYS5 ? X-linked dominant
Nystagmus 6, Congenital, X-linked NYS6 GPR143 X-linked recessive
Nystagmus 7, Congenital, AD NYS7 ? autosomal dominant
Nystagmus-Split Hand Syndrome congenital central limb ray deficiency, Karsch-Neugebauer syndrome, KNS, split-hand with congenital nystagmus fundal changes and cataracts ? autosomal dominant