Hypomyelination-congenital cataract syndrome is a rare autosomal recessive hereditary disorder that affects the brain's white matter and is characterized...
8 KB (661 words) - 22:22, 1 October 2023
likely contributes to the signs of Cockayne Syndrome such as premature aging and neuronal hypomyelination. In contrast to cells with normal repair capability...
30 KB (3,089 words) - 08:42, 2 November 2024
syndrome Cat-cry syndrome – see Cri du chat syndrome Cat-eye syndrome aka Schmid–Fraccaro syndrome Cat-scratch disease Cataract Cataract, congenital ichthyosis...
40 KB (3,657 words) - 03:02, 17 August 2024
List of genetic disorders (redirect from List of genetic syndromes)
neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination". Molecular Genetics and Metabolism. 125 (1–2): 118–126. doi:10.1016/j...
42 KB (983 words) - 18:14, 6 October 2024
Autosomal dominant leukodystrophy with autonomic disease (category Rare genetic syndromes)
brain tissues of family members affected with ADLD. Hypomyelination-congenital cataract syndrome Leukodystrophy Demyelination "Autosomal dominant leukodystrophy...
19 KB (1,801 words) - 21:28, 16 August 2024
with congenital cataract; 110800; GCNT2 Adult i phenotype without cataract; 110800; GCNT2 ADULT syndrome; 103285; TP63 Advanced sleep phase syndrome, familial;...
234 KB (18,877 words) - 15:43, 9 May 2024