Disease #03320

Official abbreviation BD-E2
Name brachydactyly type E2 (BD-E2)
OMIM ID 613382
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 16
Phenotype entries for this disease 13
Associated with 1 gene PTHLH
Associated tissues -
Disease features -
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Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00064685 - PubMed: Klopocki 2010, DECIPHER:BER251557 5-generation family, 27 affecteds (14F, 13M) F;M - - European - 0 - - BD-E2 see paper; …, learning difficulties, phenotype variable but with complete penetrance PTHLH PTHLH 1 27 Johan den Dunnen
00064686 - PubMed: Klopocki 2010, DECIPHER:BER251557 3-generation family, 1 affected F - - European - 0 - - BD-E2 see paper; …, tooth problems PTHLH PTHLH 1 1 Johan den Dunnen
00064687 - PubMed: Klopocki 2010, DECIPHER:BER251557 2-generation family, 1 affected F - - European - 0 - - BD-E2 see paper; … PTHLH PTHLH 1 1 Johan den Dunnen
00064688 - PubMed: Klopocki 2010, DECIPHER:BER251557 3-generation family, 3 affecteds (2F, M) F;M - - European - 0 - - BD-E2 see paper; … PTHLH PTHLH 1 3 Johan den Dunnen
00064689 - PubMed: Klopocki 2010, DECIPHER:BER251557 3-generation family, 3 affecteds (2F, M) F;M - - European - 0 - - BD-E2 see paper; …, hypoplastic nails first fingers PTHLH PTHLH 1 3 Johan den Dunnen
00079971 - PubMed: Thomas-Teinturier 2016 Sporadic patient F no Spain European - 0 - - BD-E2 - PTHLH PTHLH 1 1 Arrate Pereda
00079974 - PubMed: Thomas-Teinturier 2016 2-generation family, 2 affected (proband: daughter; mother) F no (France) - - 0 - - BD-E2 maternally inherited, 2 affected sisters PTHLH PTHLH 1 2 Arrate Pereda
00079975 - PubMed: Jamsheer 2016 Sporadic patient F - (Poland) - - 0 - - BD-E2 - PTHLH PTHLH 1 1 Arrate Pereda
00079977 - PubMed: Maass 2010 4-generation family, 4 affecteds (1F, 3M) F;M - - - - 0 - - BD-E2 - PTHLH - 0 4 Arrate Pereda
00079979 - - - F no (Spain) Caucasian - 0 - - BD-E2 Mild overweight, advanced bone age (final height below target height), round face, long philtrum, short neck, descended and widely separated nipples, hyperandrogenism PTHLH PTHLH 1 1 Arrate Pereda
00079980 - PubMed: Jamsheer 2016 2-generation family, 3 affecteds (2 sisters, father) F;M - (Poland) - - 0 - - BD-E2 - PTHLH PTHLH 1 3 Arrate Pereda
00079981 - PubMed: Jamsheer 2012 2-generation family, 2 affected (proband: daughter; father) F;M - Poland European - 0 - - BD-E2 - HOXD13 HOXD13 1 2 Arrate Pereda
00079982 - PubMed: Johnson 2003 4-generation family, 12 affecteds (only 9 individuals examined: 6F, 3M) F;M - (United Kingdom (Great Britain)) - - 0 - - BD-D, BD-E2 - HOXD13 HOXD13 1 12 Arrate Pereda
00079983 - PubMed: Johnson 2003 4-generation family, 8 affecteds (6F, 2M) F;M - (United Kingdom (Great Britain)) - - 0 - - BD-D, BD-E2 - HOXD13 HOXD13 1 8 Arrate Pereda
00079984 - PubMed: Johnson 2003 3-generation family, 8 affecteds (only 7 individuals examined 4F, 3M) F;M - (United Kingdom (Great Britain)) - - 0 - - BD-D, BD-E2 - HOXD13 HOXD13 1 8 Arrate Pereda
00081807 - PubMed: Wang 2015 3-generation family, 7 affecteds (5F, 2M) F;M no China - - 0 - - BD-E2 see paper; ..., brachydactyly type E, short stature PTHLH HOXA11, IFT57, PTHLH 3 7 Guiomar Perez de Nanclares
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