Disease: Nystagmus- congenital motor- autosomal recessive
- <em>CTDP1</em>-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- <em>TET3</em>-Related Beck-Fahrner Syndrome
- A gene for autosomal dominant congenital nystagmus localizes to 6p12
- Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis
- Congenital motor nystagmus linked to Xq26-q27
- CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form
- Feeding difficulty and developmental delay for 8 months and nystagmus for 4 months in an infant
- Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs
- Marinesco-Sjögren Syndrome
- Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum
- Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report
- Nystagmus in laurence-moon-biedl syndrome
- Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia
- Sacsinopathies: sacsin-related ataxia
- Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants