All individuals with variants in gene ACSL4

12 entries on 1 page. Showing entries 1 - 12.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 4 1 Yu Sun
00093461 - PubMed: Rodriguez 2010, PubMed: Meloni 2002, PubMed: Piccini 1998 - M - - European - - - - AS hearing loss; intellectual disability 1 1 Judy Savige
00170830 29961568-FamPat3 PubMed: Ito 2018, Journal: Ito 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - ? see paper; ... 1 1 Johan den Dunnen
00172899 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183091 25644381-FamAU33 PubMed: Hu 2016 family, 7 affected, 10 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 7 Johan den Dunnen
00183092 25644381-FamMRX68/D109 PubMed: Hu 2016 family, 5 affected, 3 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 5 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
00307711 UK10K_FINDWGA5411400 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00374642 S-2740 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00392045 242P1 family, 2 affected - M no Spain - - - - - MRX63 - 1 2 Alejandro Brea-Fernández
00392046 242P2 - - M no Spain - - - - - MRX63 - 1 1 Alejandro Brea-Fernández
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