Mucopolysaccharidosis Type IVa (253000) |
Luis Morquio (Uruguay) |
1929 |
Uruguayan |
(Baujat and Valayannopoulos, 2014Baujat G and Valayannopoulos V (2014) [Natural history of morquio a disease]. Arch Pediatr 21:S32-38.) |
Cantu syndrome (239850) |
José María Cantú (Mexico) |
1982 |
Mexican |
(Cantu et al., 1982Cantu JM, Garcia-Cruz D, Sanchez-Corona J, Hernandez A and Nazara Z (1982) A distinct osteochondrodysplasia with hypertrichosis- individualization of a probable autosomal recessive entity. Hum Genet 60:36-41.) |
Huntington’s disease (143100) |
Ernesto Bonilla (Venezuela) |
1983 and 1993 |
Venezuelan |
(Gusella et al., 1983Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY et al. (1983) A polymorphic DNA marker genetically linked to Huntington’s disease. Nature 306:234-238.; The Huntington’s Disease Collaborative Research Group, 1993The Huntington’s Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72:971-983.) |
Richieri-Costa/Guion-Almeida syndrome (268850) |
Antonio Richieri-Costa and María Leine Guión-Almeida (Brazil) |
1992 |
Brazilian |
(Richieri-Costa and Guion-Almeida, 1992Richieri-Costa A and Guion-Almeida ML (1992) Short stature, mental retardation, eye anomalies, and cleft lip/palate. Am J Med Genet 42:449-452.) |
Steel syndrome (615155) |
Claudia Gonzaga-Jauregui (Mexico) |
2015 |
Puerto Rican |
(Gonzaga-Jauregui et al., 2015Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR and Hecht JT (2015) Mutations in col27a1 cause steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet 23:342-346.) |
Faundes-Banka syndrome (619376) |
Víctor Faundes (Chile) |
2021 |
Multi-ancestry |
(Faundes et al., 2021Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S, Davies SJ, Douglas AGL, Fry AE, Harrison V et al. (2021) Impaired eif5a function causes a Mendelian disorder that is partially rescued in model systems by spermidine. Nat Commun 12:833.) |
Radiohumeral fusions with other skeletal and craniofacial anomalies (614416) |
Denise P. Cavalcanti (Brazil) |
2023 |
Multi-ancestry |
(Silveira et al., 2023Silveira KC, Fonseca IC, Oborn C, Wengryn P, Ghafoor S, Beke A, Dreseris ES, Wong C, Iacovone A, Soltys CL et al. (2023) Cyp26b1-related disorder: Expanding the ends of the spectrum through clinical and molecular evidence. Hum Genet 142:1571-1586.) |