All individuals with variants in gene SH3PXD2B

15 entries on 1 page. Showing entries 1 - 15.
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00311872 BAB8759/BH9282_1 PubMed: White 2018 patient F yes - - - - - - FTHS, RRS , 12d-prominent forehead, flat occiput, micrognathia, prominent eyes, hypertelorism, downslanting palpebral fissures, flat nasal bridge, nuchal edema, congenital pes equinovarus, congenital atrioventricular septal defect, recurrent respiratory infections; deceased 1 1 Johan den Dunnen
00331565 15DG0603 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Megalocornea, Congenital cataract, Congenital glaucoma, Failure to thrive, Global developYes 1 1 LOVD
00472295 Fam1Pat1 PubMed: Iqbal 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - FTHS see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; congenital glaucoma; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; protruding ears; kyphosis; prominent coccyx; bowing long bones; short hands; flexion deformity fingers; club feet; double right outlet 1 1 Johan den Dunnen
00472296 Fam2Pat1(XI2) PubMed: Ter Haar 1982, PubMed: Iqbal 2010 12-generation family, 4 affected, unaffected heterozygous carrier parents M yes Netherlands - - - - - FTHS see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; congenital glaucoma; large cornea; prominent eyes; full cheeks; broad mouth; micrognathia; protruding ears; kyphosis; prominent coccyx; bowing long bones; short hands; no flexion deformity fingers; club feet; mitral valve anomaly 1 2 Johan den Dunnen
00472297 Fam2Pat2(X!!2) PubMed: Ter Haar 1982, PubMed: Iqbal 2010 relative M yes Netherlands - - - - - FTHS see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; prominent eyes; full cheeks; anteverted nostrils; broad mouth; micrognathia; protruding ears; no kyphosis; prominent coccyx; bowing long bones; short hands; no flexion deformity fingers; no club feet; double right outlet 1 1 Johan den Dunnen
00472301 Fam6Pat1 PubMed: Maas2004, PubMed: Iqbal 2010 5-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - FTHS see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; broad alveolar ridges; no micrognathia; protruding ears; no kyphosis; prominent coccyx; no bowing long bones; short hands; flexion deformity fingers; pes adductus; mitral valve anomaly; no double right outlet; ventricular septal defect; gall stones 1 1 Johan den Dunnen
00472302 Fam7Pat1 PubMed: Iqbal 2010 4-generation family, affected brother/sister M yes Lebanon - - - - - FTHS see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; congenital glaucoma; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; no protruding ears; prominent coccyx; bowing long bones; short hands; no flexion deformity fingers; club feet; no ventricular septal defect 1 2 Johan den Dunnen
00472303 Fam7Pat2 PubMed: Iqbal 2010 sister F yes Lebanon - - - - - FTHS see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; congenital glaucoma; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; no protruding ears; prominent coccyx; bowing long bones; short hands; no flexion deformity fingers; club feet; ventricular septal defect 1 1 Johan den Dunnen
00472305 Fam9Pat1 PubMed: Iqbal 2010 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes - Arab - - - - FTHS see paper; ..., no motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; no broad alveolar ridges; micrognathia; kyphosis; no prominent coccyx; no bowing long bones; short hands; no flexion deformity fingers; no mitral valve anomaly; no ventricular septal defect 1 2 Johan den Dunnen
00472306 Fam9Pat2 PubMed: Iqbal 2010 brother M yes - Arab - - - - FTHS see paper; ..., prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; no broad alveolar ridges; micrognathia; no kyphosis; no prominent coccyx; no bowing long bones; short hands; no flexion deformity fingers; no mitral valve anomaly; ventricular septal defect 1 1 Johan den Dunnen
00472310 Fam12Pat1 PubMed: Iqbal 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Turkey - - - - - FTHS see paper; ..., prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; tetinal detachment, 7y-sudden vision loss; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; kyphosis; prominent coccyx; severe genu valgum, dislocated left knee, bilateral hips, both elbows; short hands; no flexion deformity fingers; pes valgus.; cardiomegaly, severe mitral and aortic valve prolapsed; ventricular septal defect 1 1 Johan den Dunnen
00472311 Fam13Pat1 PubMed: Iqbal 2010 2-generation family, 1 affected, unaffected parents (carrier father) M yes Israel - - - - - FTHS see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; protruding ears; kyphosis; prominent coccyx; bowing long bones; short hands; flexion deformity fingers; club feet; no mitral valve anomaly; ventricular septal defect, atrial septal defect, patent ductus arteriosis 1 1 Johan den Dunnen
00472312 BDCS1Pat17 PubMed: Wilson 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Australia - 8y - - - FTHS see paper; ..., 8y-deceased; no motor retardation; no acne; coarse face, thick skin; gingival enlargement; prominent forehead; brachycephaly; hypertelorism; no congenital glaucoma; no large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; no protruding ears; mitral valve anomaly; no double right outlet; no ventricular septal defect; vertebral anomalies; no prominent coccyx; bowing long bones; short hands; flexion deformity; club feet; osteopenia; genu valgum; radial head dislocation; thoracic wall deformity; thickened interphalangeal joints 1 1 Johan den Dunnen
00472315 BDCS3Pat3 PubMed: Wilson 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Italy - - - - - FTHS see paper; ..., no motor retardation; acne; coarse face, thick skin; gingival enlargement; prominent forehead; brachycephaly; hypertelorism; full cheeks; anteverted nostrils; broad mouth; micrognathia; protruding ears; mitral valve anomaly; no double right outlet; no ventricular septal defect; vertebral anomalies; no prominent coccyx; bowing long bones; short hands; flexion deformity; no club feet; cortical erosions; osteoporosis; osteolytic lesions; arthropathy; irregular tongue; inguinal hernia; genu recurvatum 1 2 Johan den Dunnen
00472316 BDCS3Pat4 PubMed: Wilson 2014 brother M - Italy - 24y - - - FTHS see paper; ..., 24y-deceased; no motor retardation; acne; coarse face, thick skin; gingival enlargement; prominent forehead; hypertelorism; full cheeks; anteverted nostrils; broad mouth; micrognathia; mitral valve anomaly; no double right outlet; no ventricular septal defect; vertebral anomalies; no prominent coccyx; no bowing long bones; short hands; flexion deformity; no club feet; cortical erosions; osteoporosis 1 1 Johan den Dunnen
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