All individuals with variants in gene CCDC47

4 entries on 1 page. Showing entries 1 - 4.
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00225481 30401460-Fam1 PubMed: Morimoto 2018, Journal: Morimoto 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Europe, north/native American - - - - ? delivery c-section; premature birth; polyhydramnios; no respiratory distress; bradycardia; birth weight 75th; decreased body weight; microcephaly; coarse facies; midface hypoplasia; hypertelorism; almond-shaped palpebral fissure; no epicanthal folds; ptosis; long eyelashes; synophrys; ectropion; unusual nose; downturned mouth; no macrostomia; no macroglossia; full or thick lips; dental abnormalities; high arched palate; ear abnormalities; bilateral otitis media; no bitemporal narrowing; brachycephaly; plagiocephaly; pruritus; unusual hair; thoracic hypertrichosis; fifth digit hypoplasia and/or clinodactyly; no dystrophic nails; overlapping toes; distal arthrogryposis / joint laxity; hypoplastic nipples; genital anomaly; hypotonia; bilateral hip dislocation; hip dysplasia; bilateral coxa valga; abnormal bone density; narrow chest; fibular bowing; no genu valgum; bilateral clubfoot; small feet; pectus excavatum; no scoliosis; hyperopia; astigmatism; cortical visual impairment; no recurrent infections; no immunodeficiency; no hypothyroidism; no rickets; obstructive sleep apnea; central sleep apnea; no ventricular septal defect; patent ductus arteriosus; hepatosplenomegaly; liver dysfunction; recurrent pancreatitis; exocrine pancreatic insufficiency; gastresophageal reflux; steatorrhea; no chronic diarrhea; gallstones; gastrostomy tube; elevated bile acids; renal abnormalities; severe global developmental delay; no hyperreflexia; reduced tendon reflexes; absent achilles reflex; no behavioral issues; no seizures; EEG abnormalities; abnormal ventricle morphology; abnormal corpus callosum; cerebral atrophy; no white matter abnormalities; no cerebellar hypoplasia 2 1 Johan den Dunnen
00225482 30401460-Fam2 PubMed: Morimoto 2018, Journal: Morimoto 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - ? delivery c-section; born at term; no polyhydramnios; decreased fetal movements; bradycardia; decreased body weight; microcephaly; coarse facies; midface hypoplasia; hypertelorism; almond-shaped palpebral fissure; no epicanthal folds; ptosis; long eyelashes; no synophrys; ectropion; unusual nose; downturned mouth; macrostomia; macroglossia; full or thick lips; no dental abnormalities; high arched palate; ear abnormalities; bilateral otitis media; bitemporal narrowing; brachycephaly; plagiocephaly; pruritus; unusual hair; thoracic hypertrichosis; fifth digit hypoplasia and/or clinodactyly; no dystrophic nails; overlapping toes; distal arthrogryposis / joint laxity; hypoplastic nipples; genital anomaly; hypotonia; bilateral hip dislocation; hip dysplasia; no bilateral coxa valga; abnormal bone density; narrow chest; fibular bowing; no genu valgum; bilateral clubfoot; small feet; no pectus excavatum; scoliosis; recurrent infections; immunodeficiency; rickets; obstructive sleep apnea; ventricular septal defect; patent ductus arteriosus; no hepatosplenomegaly; steatorrhea; chronic diarrhea; no gallstones; no gastrostomy tube; renal abnormalities; severe global developmental delay; no hyperreflexia; reduced tendon reflexes; absent achilles reflex; no behavioral issues; abnormal ventricle morphology; no abnormal corpus callosum; cerebral atrophy; no white matter abnormalities; no cerebellar hypoplasia 1 1 Johan den Dunnen
00225483 30401460-Fam3 PubMed: Morimoto 2018, Journal: Morimoto 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United States Amish - - - - ? delivery c-section; born at term; no polyhydramnios; respiratory distress; decreased fetal movements; no bradycardia; birth weight <3rd; decreased body weight; microcephaly; coarse facies; midface hypoplasia; hypertelorism; no almond-shaped palpebral fissure; epicanthal folds; ptosis; no long eyelashes; synophrys; no; unusual nose; downturned mouth; wide mouth; macroglossia; full or thick lips; dental abnormalities; high arched palate; ear abnormalities; bilateral otitis media; bitemporal narrowing; brachycephaly; plagiocephaly; pruritus; unusual hair; thoracic hypertrichosis; fifth digit hypoplasia and/or clinodactyly; dystrophic nails; overlapping toes; distal arthrogryposis / joint laxity; hypoplastic nipples; no genital anomaly; hypotonia; no narrow chest; no fibular bowing; genu valgum; no bilateral clubfoot; small feet; no pectus excavatum; scoliosis; no hyperopia; no astigmatism; cortical visual impairment; recurrent infections; immunodeficiency; hypothyroidism; rickets; obstructive sleep apnea; central sleep apnea; no ventricular septal defect; no patent ductus arteriosus; hepatosplenomegaly; liver dysfunction; no recurrent pancreatitis; no exocrine pancreatic insufficiency; gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; gastrostomy tube; elevated bile acids; no renal abnormalities; severe global developmental delay; hyperreflexia; no reduced tendon reflexes; no absent achilles reflex; behavioral issues; seizures; EEG abnormalities; no abnormal ventricle morphology; no abnormal corpus callosum; cerebral atrophy; no white matter abnormalities; no cerebellar hypoplasia 1 1 Johan den Dunnen
00225484 30401460-Fam4 PubMed: Morimoto 2018, Journal: Morimoto 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United States Amish - - - - ? delivery c-section; born at term; no polyhydramnios; respiratory distress; bradycardia; birth weight 10th; decreased body weight; microcephaly; coarse facies; no midface hypoplasia; no hypertelorism; no almond-shaped palpebral fissure; no epicanthal folds; ptosis; no long eyelashes; synophrys; no; unusual nose; downturned mouth; no macrostomia; macroglossia; full or thick lips; dental abnormalities; high arched palate; ear abnormalities; bilateral otitis media; bitemporal narrowing; brachycephaly; no plagiocephaly; pruritus; unusual hair; thoracic hypertrichosis; fifth digit hypoplasia and/or clinodactyly; no dystrophic nails; overlapping toes; distal arthrogryposis / joint laxity; hypoplastic nipples; no genital anomaly; hypotonia; no bilateral hip dislocation; hip dysplasia; bilateral coxa valga; no narrow chest; no fibular bowing; no genu valgum; bilateral clubfoot; small feet; pectus excavatum; no scoliosis; hyperopia; no astigmatism; cortical visual impairment; no recurrent infections; no immunodeficiency; no hypothyroidism; no rickets; no obstructive sleep apnea; no central sleep apnea; no ventricular septal defect; no patent ductus arteriosus; no hepatosplenomegaly; liver dysfunction; no recurrent pancreatitis; no exocrine pancreatic insufficiency; gastresophageal reflux; no steatorrhea; chronic diarrhea; gallstones; gastrostomy tube; elevated bile acids; no renal abnormalities; severe global developmental delay; hyperreflexia; no reduced tendon reflexes; no absent achilles reflex; behavioral issues; no seizures; EEG abnormalities; abnormal ventricle morphology; abnormal corpus callosum; cerebral atrophy; white matter abnormalities; cerebellar hypoplasia 1 1 Johan den Dunnen
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