441
|
|
|
NADH:ubiquinone oxidoreductase complex assembly factor 5 |
C20orf7, MC1DN16, bA526K24.2, dJ842G6.1 |
Anemia, Cerebellar ataxia, Choreoathetosis, Developmental delay, Diabetes mellitus, Dysarthria, Epileptic encephalopathy, Hearing loss, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Mental retardation, Isolated complex i deficiency, Leber plus disease, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Mood swings, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Retinitis pigmentosa, Strabismus, Ventricular septal defectView all (14 more) |
442
|
|
|
Negative elongation factor complex member E |
D6S45, NELF-E, RD, RDBP, RDP |
|
443
|
|
|
NFKB activating protein |
MRXSHD |
|
444
|
|
|
Neuron derived neurotrophic factor |
C4orf31, HH25, NORD |
|
445
|
|
|
Nei like DNA glycosylase 1 |
FPG1, NEI1, hFPG1 |
|
446
|
|
|
Asparaginyl-tRNA synthetase 2, mitochondrial |
DFNB94, SLM5, asnRS |
Agenesis of corpus callosum, Central visual impairment, Cerebellar atrophy, Combined oxidative phosphorylation deficiency, Developmental delay, Developmental regression, Facial paralysis, Glomerulosclerosis, Hypoplasia of corpus callosum, Leigh syndrome, Metabolic alkalosis, Microcephaly, Myopathy, Necrotizing encephalomyelopathy, Non-syndromic sensorineural deafness, Nonsyndromic deafness, Nystagmus, Optic atrophy, Ptosis, Sensorineural hearing loss, Status epilepticusView all (6 more) |
447
|
|
|
Non-homologous end joining factor 1 |
IMD124, MCOPCB13, XLF |
|
448
|
|
|
NIMA related kinase 11 |
- |
|
449
|
|
|
Nucleoporin 85 |
FROUNT, NPHS17, Nup75 |
|
450
|
|
|
Nanog homeobox |
- |
|