All individuals with variants in gene DOCK6

48 entries on 1 page. Showing entries 1 - 48.
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00029772 - PubMed: Shaheen 2011 5-generation family, unaffected carrier parents, has affected niece (PatV12) F yes Saudi Arabia Arab >00y11m - - - AOS scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; optic atrophy; severe ID; seizures / epilepsy; cerebral palsy / spasticity 1 1 Maja Sukalo
00029773 - PubMed: Shaheen 2011 4-generation family, unaffected carrier parents F yes Saudi Arabia Arab >03y06m - - - AOS scalp defect; TTLD of hands and feet; microcephaly; developmental delay; 1 1 Maja Sukalo
00029774 - PubMed: Shaheen 2013 4-generation family, unaffected carrier parents; brother of #00029774 M yes (Saudi Arabia) Arab? >01y00m - - - AOS scalp defect; TTLD of hands and feet; aortic valve dysplasia; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); abdominal skin defect; 1 2 Maja Sukalo
00029775 - PubMed: Shaheen 2013 4-generation family, unaffected carrier parents; sister of #00029773 F yes (Saudi Arabia) Arab? ? - - - AOS scalp defects; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); seizures / epilepsy; gastroschisis; 1 1 Maja Sukalo
00029776 - PubMed: Shaheen 2013 4-generation family, unaffected carrier parents, 2 affected sisters F yes (Saudi Arabia) Arab? >02y00m - - - AOS scalp defect; TTLD of hands and feet; periventricular lesions (calcification, gliosis); pachygyria; optic atrophy; seizures / epilepsy; 1 2 Maja Sukalo
00029777 - PubMed: Lehman 2014 2-generation family, unaffected carrier parents F no - Northern European >02y00m - - - AOS IUGR; scalp defect; TTLD of hands and feet; tetralogy of Fallot; persistent left superior vena cava; periventricular lesions (calcification, gliosis); porencephaly; microcephaly; retinal detachment; severe ID; seizures / epilepsy; placental vasculopathy; neonatal thrombocytopenia; small bowel infarction; 2 1 Maja Sukalo
00029778 - - - F yes Turkey - >05y00m - - - AOS scalp defect; TTLD of hands and feet; microcephaly; microphthalmia; retinal detachment; vitreous opacities/membranes; anterior chamber abnormality; developmental delay; seizures / epilepsy; high palate; 1 1 Maja Sukalo
00029779 - - - M no - - <10y00m - - - AOS scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; microcephaly; ocular anomaly; severe ID; seizures / epilepsy; cerebral palsy / spasticity; CMTC; single umbilical artery; cryptorchidism; 2 1 Maja Sukalo
00029780 - - - M yes Turkey - >20y00m - - - AOS IUGR; scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; anterior chamber abnormality; severe ID; seizures / epilepsy; cerebral palsy / spasticity; CMTC; abdominal skin defect; 1 1 Maja Sukalo
00029781 - - - F yes Turkey - >00y03m - - - AOS scalp defect; TTLD of hands and feet; patent ductus arteriosus; ventricular dilatation / brain atrophy; microcephaly; microphthalmia; knee dislocation; 1 1 Maja Sukalo
00029782 - PubMed: Prothero 2007 - M yes Afghanistan - >09y00m - - - AOS IUGR; scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; moderate ID; seizures / epilepsy; cryptorchidism; 1 1 Maja Sukalo
00029783 - PubMed: Orstavik 1995 sister of #00029783 F no Norway - ? - - - AOS scalp defect; TTLD of hands and feet; ventricular septal defect; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; vitreous opacities/membranes; severe ID; seizures / epilepsy; cerebral palsy / spasticity; abdominal skin defects; absence of right patella; 2 2 Maja Sukalo
00029784 - PubMed: Orstavik 1995 brother of #00029782 M no Norway - 00y00m - - - AOS IUGR; scalp defects; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; retinal detachment; abdominal skin defect; patella fixed to skin; 2 1 Maja Sukalo
00029785 - - sister of #00029785 F no - white >07y00m - - - AOS scalp defect; TTLD of hands and feet; brain anomalies; microcephaly; ocular anomalies; severe ID; seizures / epilepsy; abdominal skin defect; 2 2 Maja Sukalo
00029786 - - brother of #00029784 M no - white >08y00m - - - AOS IUGR; TTLD of feet; total anomalous pulmonary venous connection; ocular anomalies; mild ID; hypothyroidism; 2 1 Maja Sukalo
00029787 - - - F yes - - ? - - - AOS scalp defect; TTLD of hands and feet; no further data available; 1 1 Maja Sukalo
00029788 - - - F yes Morocco - >07y00m - - - AOS scalp defect; TTLD of hands and feet; periventricular lesions (calcification, gliosis); no further data available; 1 1 Maja Sukalo
00029789 - - - F yes Morocco - ? - - - AOS scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; periventricular lesions (calcification, gliosis); microcephaly; seizures / epilepsy; 1 1 Maja Sukalo
00034059 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034062 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034063 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034064 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 2 Maja Sukalo
00034065 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 2 1 Maja Sukalo
00034066 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034067 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034068 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034069 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034070 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034071 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034072 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034073 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 1 1 Maja Sukalo
00034074 - - cohort of 70 families from Germany, Belgium, UK - - - (Europe) - - - - AOS - 3 1 Maja Sukalo
00292031 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 25 Mohammed Faruq
00292032 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292033 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 21 Mohammed Faruq
00296754 - - - M no (China) - - - - - AOS2 no microcephaly (-HP000252), no scalp defects, no developmental delay, no dilatation 2 1 Yan Cai
00331401 15DG0742 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Brachydactyly, Small nail 1 1 LOVD
00331402 10DG1365, 10DG1712 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Global developmental delay, Seizures, Blindness, Microcephaly, Aplasia cutis congenita of No 1 2 LOVD
00331403 12DG2564 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Aplasia cutis congenita, Depressed nasal bridge, Bulbous nose, Single transverse palmar crYes 1 1 LOVD
00391870 059P - - M no Spain - - - - - AOS2, ID - 2 1 Alejandro Brea-Fernández
00397338 - PubMed: Gu 2018 - - - China - - - - - HR - 1 1 Johan den Dunnen
00397339 - PubMed: Gu 2018 - - - China - - - - - HR - 1 1 Johan den Dunnen
00397340 - PubMed: Gu 2018 - - - China - - - - - HR - 1 1 Johan den Dunnen
00417195 - - Non-consanguineous family with two affected children - no Mexico - - - - - AOS2 microcephaly (<3rd centile, HP:0000252), aplasia cutis congenita scalp (HP:0007385), global developmental delay (HP:0001263) 1 1 Martin Zenker
00446573 - - - F no Spain - - - - - AOS2 aplasia cutis congenita of the scalp (HP:0007385); hypertelorism (HP:0000316); vitreoretinal abnormalities, congenita (HP:0007773); cutis marmorata (HP:0000965); calcifications of cerebral ventricles 2 1 Maria Elena García Paya
00453746 BAV980 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD - 1 1 Johan den Dunnen
00453793 BAV966 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD - 1 1 Johan den Dunnen
00466389 342561 - - F no ? (unknown) - - - - - AOS2 Neurodevelopmental delay, Microcephaly, Abnormality of the distal phalanges of the toes, Abnormal distal phalanx morphology of finger, 2-3 toe syndactyly 1 1 Andreas Laner
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