All individuals with variants in gene LRRK1

2 entries on 1 page. Showing entries 1 - 2.
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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 2 1 Johan den Dunnen
00271451 - - - - - Saudi Arabia Arab - - - - ADHD - 1 1 Nada Al Tassan
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