Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Nance-Horan Syndrome | NHS | cataract-dental syndrome, X-linked cataract with Hutchinson teeth, mesiodens-cataract syndrome | 302350, 302200 | X-linked recessive, X-linked dominant |
| Nanophthalmos 1 | 11p locus | NNO1 | 600165 | autosomal dominant |
| Nanophthalmos 2 | MFRP | NNO2 | 609549 | autosomal recessive, autosomal dominant |
| Nanophthalmos 3 | 2q11-q14 locus | NNO3, nanophthalmia 3 | 611897 | autosomal dominant |
| Nanophthalmos AD | TMEM98 | NNOAD | autosomal dominant | |
| Nanophthalmos Plus Syndrome | MFRP | autosomal recessive | ||
| Nanophthalmos with Retinitis Pigmentosa | CRB1 | autosomal recessive | ||
| Nanophthalmos with Retinopathy | ? | 267760 | autosomal recessive | |
| Nemaline Myopathy 10 | LMOD3 | NEM10 | 616165 | autosomal recessive |
| Neu-Laxova Syndrome 1 | PHGDH | NLS, NLS1 | 256520 | autosomal recessive |
| Neu-Laxova Syndrome 2 | PSAT1 | NLS, NLS2 | 616038 | autosomal recessive |
| Neuhauser Syndrome | ? | MMR syndrome, megalocornea-mental retardation syndrome | 249310 | autosomal recessive |
| Neuraminidase Deficiency | NEU1 | myoclonus-cherry red spot syndrome, sialidosis type I, mucolipidosis I, ML 1, sialidosis type II, NEU1 deficiency | 256550 | autosomal recessive |
| Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset | SQSTM1 | NADGP | 617145 | autosomal recessive |
| Neurodegeneration with Brain Iron Accumulation | FTL, PLA2G6 | Hallervorden-Spatz disease, NBIA2A, NBIA2B, NBIA3, Seitelberger disease, Karak syndrome, infantile neuroaxonal dystrophy, INAD1, INAD | 256600, 610217 | autosomal recessive |
| Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities | GRIA4 | NEDSGA | 617864 | autosomal dominant |
| Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies | PLAA | NDMSBA | 617527 | autosomal recessive |
| Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis | WARS2 | NEMMLAS | 617710 | autosomal recessive |
| Neurofibromatosis Type I | NF1 | peripheral neurofibromatosis, von Recklinghausen disease | 162200 | autosomal dominant |
| Neurofibromatosis Type II | NF2 | central neurofibromatosis, acoustic schwannoma, acoustic neurinoma, ACN | 101000 | autosomal dominant |
| Neuronal Ceroid Lipofuscinoses | PPT1, CTSD, TPP1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN9, ATP13A2, MFSD8 | neuronal ceroid lipofuscinosis, NCL, Batten disease, Vogt-Spielmeyer disease | 256730, 204500, 256731, 601780, 610003, 204200, 609055, 610127, 204300, 610951, 606693 | autosomal recessive, autosomal dominant |
| Neuropathy, Ataxia, and Retinitis Pigmentosa | MTATP6 | NARP syndrome | 551500 | mitochondrial |
| Niemann-Pick Disease, Type C2 | NPC2 | NPC2 | 607625 | autosomal recessive |
| Niemann-Pick Disease, Types A and B | SMPD1 | sphingomyelin lipodosis, sphingomyelinase deficiency | 257200, 607616 | autosomal recessive |
| Niemann-Pick Disease, Types C1 (D) | NPC1 | Niemann-Pick disease Nova Scotian type, NPC, Niemann-Pick disease chronic neuronopathic form, Niemann-Pick disease with cholesterol esterification block | 257220 | autosomal recessive |
| Night Blindness, Congenital Stationary, CSNB1A | NYX | X-linked CSNB, NBM1, night blindness with myopia, CSNB1A | 310500 | X-linked recessive |
| Night Blindness, Congenital Stationary, CSNB1B | GRM6 | CSNB, type 1B night blindness, CSNB1B | 257270 | autosomal recessive |
| Night Blindness, Congenital Stationary, CSNB1C | TRPM1 | CSNB, type 1C night blindness with myopia, CSNB1C | 613216 | autosomal recessive |
| Night Blindness, Congenital Stationary, CSNB1E | GPR179 | CSNB1E | 614565 | autosomal recessive |
| Night Blindness, Congenital Stationary, CSNB1H | GNB3 | CSNB1H | 617024 | autosomal recessive |
| Night Blindness, Congenital Stationary, CSNB2A | CACNA1F | X-linked CSNB, type 2A night blindness with myopia, CSNB2, CSNB2A | 300071 | X-linked recessive |
| Night Blindness, Congenital Stationary, CSNB2B | CABP4 | CSNB, type 2B night blindness with myopia, CSNB2B | 610427 | autosomal recessive |
| Night Blindness, Congenital Stationary, CSNBAD1 | RHO | CSNB, type AD1 night blindness, CSNBAD1 | 610445 | autosomal dominant |
| Night Blindness, Congenital Stationary, CSNBAD2 | PDE6B | CSNB, type AD2 night blindness, CSNBAD2, Rambusch type congenital stationary night blindness | 163500 | autosomal dominant |
| Night Blindness, Congenital Stationary, CSNBAD3 | GNAT1 | CSNB, type AD3 night blindness, CSNBAD3, Nougaret type congenital stationary night blindness, CSNB1G | 610444, 616389 | autosomal dominant |
| Noonan Syndrome | PTPN11, SOS1, KRAS, RAF1, BRAF, MEK1, NRAS, LZTR1 | male Turner syndrome, female pseudo-Turner syndrome, NS1, NS2, NS3, NS4, NS5, NS6, NS7 | 605275, 163950, 610733, 611553, 609942, 613224, 605275, 613706 | autosomal dominant, autosomal recessive |
| Norrie Disease | NDP | Episkopi blindness, atrophia bulborum hereditaria, ND | 310600 | X-linked recessive |
| Nystagmus 1, Congenital, X-linked | FRMD7 | nystagmus 1, infantile nystagmus, congenital motor nystagmus 1, idiopathic infantile nystagmus, NYS1 | 310700 | X-linked recessive |
| Nystagmus 2, Congenital, AD | ? | nystagmus congenital motor 2, NYS2 | 164100 | autosomal dominant |
| Nystagmus 3, Congenital, AD | ? | NYS3 | 608345 | autosomal dominant |