All individuals with variants in gene ABCA2

3 entries on 1 page. Showing entries 1 - 3.
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00301695 16-2987 PubMed: Maddirevula 2019 - M - Saudi Arabia - - 0 - - ? history of global developmental delay and epilepsy. He was born full term. His birth weight was 3.5 kg. He had multiple admissions in the first year of life for fever, diarrhea, vomiting and seizures. He has global developmental delay. Parents are distantly related. He has one brother and three sisters, all of whom are healthy. He has mild dysmorphic features with prominent forehead and somewhat deep-set eyes. He has no birth marks or hepatosplenomegaly. Pupils, extraocular muscles, facial, and tongue movements are all symmetrical and normal. He has diffuse hypotonia and weakness but moves all his extremities against gravity. He localized to pain upon stimulation throughout. Brain MRI was unremarkable. 1 1 Johan den Dunnen
00301696 16DG0071 PubMed: Maddirevula 2019 - F - - - - 0 - - ? G1P0 19 yr old mother, pregnancy was uncomplicated. She developed epilepsy at 9 months of age with concomitant developmental delay. She is short (131.5 cm), microcephalic (50 cm). She had significant internal rotation of the hips especially the left. MRI showed small pituitary gland. Parents are first cousins and have two healthy daughters. 1 1 Johan den Dunnen
00387797 M8600615 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes - Baloch - 0 - - ID syndromic intellectual disability, microcephaly (SD-2), epilepsy 1 3 Johan den Dunnen
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