All individuals with variants in gene COLEC11

20 entries on 1 page. Showing entries 1 - 20.
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00106633 - PubMed: Rooryck 2011 Family MC11 - - Italy - - - - - 3MC2 Carnevale 1 1 Johan den Dunnen
00106634 - PubMed: Rooryck 2011 Family MC4 - - Afghanistan - - - - - 3MC2 Malpuech or Michels 1 1 Johan den Dunnen
00106635 - PubMed: Rooryck 2011 Family MC4 - - Afghanistan - - - - - 3MC2 Malpuech or Michels 1 1 Johan den Dunnen
00106636 - PubMed: Rooryck 2011 Family MC9 - - Pakistan - - - - - 3MC2 Malpuech 1 1 Johan den Dunnen
00106637 - PubMed: Rooryck 2011 Family MC8 - - Saudi Arabia - - - - - 3MC2 Carnevale 1 1 Johan den Dunnen
00106638 - PubMed: Rooryck 2011 Family MC2 - - Bangladesh - - - - - 3MC2 Malpuech 1 1 Johan den Dunnen
00106639 - PubMed: Rooryck 2011 Family MC2 - - Bangladesh - - - - - 3MC2 Malpuech 1 1 Johan den Dunnen
00330806 FamMC29.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected parents - yes Lebanon - - - - - 3MC no small stature (<3rd); arched eyebrows; blepharoptosis; no epicanthus inversus; no hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties 1 1 Johan den Dunnen
00330807 FamMC35.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Pakistan - - - - - 3MC no small stature (<3rd); arched eyebrows; blepharoptosis; epicanthus inversus; hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties 1 1 Johan den Dunnen
00330808 FamMC37.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected parents - yes Somalia - - - - - 3MC no small stature (<3rd); arched eyebrows; no blepharoptosis; no epicanthus inversus; no hypertelorism; dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; hypotonia; radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; horseshoe kidney; no micropenis; no undescended testes; corneal clouding; deep set nails; feeding difficulties 1 1 Johan den Dunnen
00330809 FamMC1Pat1.1 PubMed: Rooryck 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Tunisia - - - - - 3MC no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti 1 2 Johan den Dunnen
00330810 FamMC1Pat1.2 PubMed: Rooryck 2011 sister F yes Tunisia - - - - - 3MC no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; no cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti 1 1 Johan den Dunnen
00330811 FamMC2Pat2.1 PubMed: Rooryck 2011 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Bangladesh - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti 1 2 Johan den Dunnen
00330812 FamMC2Pat2.2 PubMed: Rooryck 2011 brother M yes Bangladesh - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti 1 1 Johan den Dunnen
00330813 FamMC4Pat4.1 PubMed: Rooryck 2011 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M yes Afghanistan - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; cardiac defect; caudal appendage; genital anomaly; no diastasis recti 1 2 Johan den Dunnen
00330814 FamMC4Pat4.2 PubMed: Rooryck 2011 brother M yes Afghanistan - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; no genital anomaly; no diastasis recti 1 1 Johan den Dunnen
00330815 FamMC8Pat8.1 PubMed: Rooryck 2011 - F yes Saudi Arabia - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti 1 1 Johan den Dunnen
00330816 FamMC9Pat9.1 PubMed: Rooryck 2011 - F no Pakistan - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti 1 1 Johan den Dunnen
00330817 FamMC10Pat10 PubMed: Rooryck 2011 - F no Italy - - - - - 3MC no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; high arched palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti 1 1 Johan den Dunnen
00330818 FamMC11Pat11 PubMed: Rooryck 2011 - M yes Italy - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; high arched palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti 1 1 Johan den Dunnen
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