All individuals with variants in gene MASP1

13 entries on 1 page. Showing entries 1 - 13.
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00330805 FamMC27.1 PubMed: Munye 2017 - - yes Pakistan - - - - - 3MC no small stature (<3rd); arched eyebrows; blepharoptosis; epicanthus inversus; hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); cleft lip (bilateral); no cleft palate (unilateral); cleft palate (bilateral); developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; no diastasis recti/umbilical hernia; sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; patent ductus arteriosus; no horseshoe kidney; micropenis; undescended testes; no corneal clouding; no deep set nails; no feeding difficulties 1 1 Johan den Dunnen
00330819 FamMC3Pat3.1 PubMed: Rooryck 2011 5-generation family, 3 affected brothers M yes Greece - - - - - 3MC no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti 1 3 Johan den Dunnen
00330820 FamMC5Pat5.1 PubMed: Rooryck 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Italy - - - - - 3MC growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; genital anomaly; no diastasis recti 1 2 Johan den Dunnen
00330821 FamMC5Pat5.2 PubMed: Rooryck 2011 brother M no Italy - - - - - 3MC growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; genital anomaly; no diastasis recti 1 1 Johan den Dunnen
00330822 FamMC6Pat6.1 PubMed: Rooryck 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no Brazil - - - - - 3MC no growth deficiency; no cognitive impairment; no hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; no genital anomaly; no diastasis recti 1 2 Johan den Dunnen
00330823 FamMC6Pat6.2 PubMed: Rooryck 2011 sister M no Brazil - - - - - 3MC no growth deficiency; no cognitive impairment; no hypertension; blepharoptosis; no 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; caudal appendage; genital anomaly; no diastasis recti 1 1 Johan den Dunnen
00330824 FamMC7Pat7.1 PubMed: Rooryck 2011 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M yes Brazil - - - - - 3MC growth deficiency; no 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; no cardiac defect; no caudal appendage; genital anomaly; no diastasis recti 1 2 Johan den Dunnen
00330825 Fam1Pat1 PubMed: Sirmaci 2010 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 3MC see paper; ..., no short stature, mental retardation; arched eyebrows, no telecanthus, hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; deviated or short fingers; limitation elbow movements; no vertebral anomalies; no genital anomalies; vesicorenal anomalies; caudal appendage 1 2 Johan den Dunnen
00330826 Fam1Pat2 PubMed: Sirmaci 2010 sister F - Turkey - - - - - 3MC see paper; ..., no short stature, mental retardation; arched eyebrows, telecanthus, hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; no deviated or short fingers; no limitation elbow movements; no vertebral anomalies; no genital anomalies; no vesicorenal anomalies; caudal appendage 1 1 Johan den Dunnen
00330827 Fam2Pat1 PubMed: Sirmaci 2010 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 3MC see paper; ..., no short stature, mental retardation; arched eyebrows, telecanthus, no hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; no hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; deviated or short fingers; no limitation elbow movements; no vertebral anomalies; no genital anomalies; vesicorenal anomalies; caudal appendage 1 1 Johan den Dunnen
00359618 - Journal: Loules 2020 - F - Hungary - - - - - HAE3 Proband presenting with a HAE with normal C1 inhibitor and non identified type 1 2 Christian Drouet
00361999 Pat2AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - retinal disease - 1 1 LOVD
00362001 Pat4AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - retinal disease - 2 1 LOVD
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