All individuals with variants in gene ABCA6

1 entry on 1 page. Showing entry 1.
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00225483 30401460-Fam3 PubMed: Morimoto 2018, Journal: Morimoto 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United States Amish - 0 - - ? 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; centra 1 1 Johan den Dunnen
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