DERL2, derlin 2, 51009

N. diseases: 60; N. variants: 0
Disease: Congenital malformation syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.020 GeneticVariation disease BEFREE We report on an infant with multiple congenital anomalies including complex craniosynostosis associated with an unbalanced karyotype, 46,XY,-2,+der(2),t(2;15)(q37;q26)pat. 1621758 1992
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.020 GeneticVariation disease BEFREE High resolution chromosome banding showed a male infant with profound mental retardation, hypertonia and multiple congenital anomalies to have the karyotype 46,XY,-der (2),t(2;12)(q37.3;q24.13)pat. 4042392 1985