All individuals with variants in gene C12orf4

5 entries on 1 page. Showing entries 1 - 5.
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00144512 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750) 1 1 IMGAG
00144513 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750) 1 1 IMGAG
00225686 25558065-Fam09DG00102 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - ? see paper; …, global developmental delay 1 3 Johan den Dunnen
00301701 15DG2605 PubMed: Maddirevula 2019 - M yes - - - - - - ? pregnancy was complicated by threatened abortion in the first trimester but later progressed uneventfully. Delivery was by emergency C/S due to cephalopelvic disproportion and prior C/S. He had no perinatal complications, was discharged in good condition, and had unremarkable neonatal life. His parents got concerned about his floppiness and development following an episode of diarrhea at the age of 3 months, which has shortly been followed by chest infection requiring admission. After another episode of chest infection at 9 months, he was admitted for further investigation and was found to have GERD. He was evaluated for hypotonia and muscle biopsy was done, revealing non-specific changes. Review of systems was unremarkable, there was no history of seizures and developmental history revealed that sitting was attained at 28 months, and he could say less than 10 words. Parents are first cousins and his older brother is normal. There is history of three cousins suspected to have intellectual disability or autism. Examination showed no dysmorphic features apart from mild epicanthus. Weight was 12.1 kg (slightly below 25th centile), length 86 cm (5-10th centile), and head circumference 49 cm (slightly below the 50th centile). There was hypotonia associated with hypoactive deep tendon reflexes. CT brain was normal 1 1 Johan den Dunnen
00361499 09DG00100 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; intellectual disability 1 1 Johan den Dunnen
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