Disease List
- N-acetylgalactosamino-4-sulfatase-deficiency - See Mucopolysaccharidosis Type VI
- NCBRS - See Nicolaides-baraitser syndrome
- Nemaline Myopathy
- Neonatal form of MCD - See Holocarboxylase synthetase deficiency
- Nephrotic syndrome type 1
- Neurofibromatosis, type 1
- Neurofibromatosis, type II
- Neuronal ceroid lipofuscinosis
- NF1 - See Neurofibromatosis, type 1
- NGLY1 deficiency
- Nicolaides-baraitser syndrome
- Niemann-pick type c
- Niemann-pick types a/b
- Nijmegen breakage syndrome (NBS)
- Noonan syndrome
- Norrie disease
- NPHS1 - See Nephrotic syndrome type 1
