Disease #00038 (ULD (Unverricht-Lundborg Syndrome), OMIM:254800)

Official abbreviation ULD
Name Unverricht-Lundborg Syndrome
OMIM ID 254800
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 19
Phenotype entries for this disease -
Associated with 3 genes CSTB, PRICKLE1, SCARB2
Associated tissues -
Disease features -
Remarks -


Individuals

19 entries on 1 page. Showing entries 1 - 19.
Legend   How to query  

AscendingIndividual ID     
Reference     
Ethnic origin     
Remarks     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00004397 Pennacchio LA1, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la (1996) - - ULD - CSTB CSTB 1 1 Y Yang
00004398 Pennacchio LA1, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la (1996) - - ULD - CSTB CSTB 1 1 Y Yang
00004399 Lalioti MD1, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE.(1997) - - ULD - CSTB CSTB 1 1 Y Yang
00004400 Bespalova IN1, Adkins S, Pranzatelli M, Burmeister M.(1997) - - ULD - CSTB CSTB 1 1 Y Yang
00004401 de Haan GJ1, Halley DJ, Doelman JC, Geesink HH, Augustijn PB, Jager-Jongkind AD, Majoie M, Bader AJ, Leliefeld-Ten Doeschate LA, Deelen WH, Bertram E, Lehesjoki AE, Lindhout D.(2004) - - ULD - CSTB CSTB 1 1 Y Yang
00004402 Joensuu T1, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE.(2007) - - ULD - CSTB CSTB 1 1 Y Yang
00004403 Joensuu T1, Lehesjoki AE, Kopra O.(2008) - - ULD - CSTB CSTB 1 1 Y Yang
00004404 Joensuu T1, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE.(2007) - - ULD - CSTB CSTB 1 1 Y Yang
00004405 Kagitani-Shimono K1, Imai K, Okamoto N, Ono J, Okada S.(2002) - - ULD - CSTB CSTB 1 1 Y Yang
00004406 Bassuk AG1, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D,(2008) - - ULD - PRICKLE1 PRICKLE1 1 1 Y Yang
00004407 Dibbens LM1, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, (2009) - - ULD - SCARB2 SCARB2 1 1 Y Yang
00004408 Dibbens LM1, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, (2009) - - ULD - SCARB2 SCARB2 1 1 Y Yang
00004409 Dibbens LM1, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, (2009) - - ULD - SCARB2 SCARB2 1 1 Y Yang
00004410 Dibbens LM1, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, (2009) - - ULD - SCARB2 SCARB2 1 1 Y Yang
00005956 Danner N et al. (2011) - - ULD - CSTB CSTB 1 1 XY Liu
00005957 Koskenkorva P et al. (2011) - - ULD - CSTB CSTB 1 1 XY Liu
00005958 Pinto E et al. (2012) - - ULD - CSTB CSTB 1 1 XY Liu
00005962 Duarte AJ et al. (2015) - - ULD - CSTB CSTB 1 1 XY Liu
00005963 Assenza G et al. (2017) - - ULD - CSTB CSTB 1 1 XY Liu
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.