All individuals with variants in gene MACROD2

2 entries on 1 page. Showing entries 1 - 2.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00394356 AgS1 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - retinal disease Increased pressure on optic nerve, electroretinogram consistent with Alstrom syndrome 1 1 LOVD
00419898 Pat15 PubMed: Angelozzi 2022 - M - - - - - - - NDD birth 41w; IUGR; poor growth during childhood (4-9y growth hormone treatment); hypotonia; global developmental delay; no gross motor delay; 12m-walk; speech delay, 14m-first words; mild intellectual disability, WISC-III, total IQ47; verbal comprehension index 59, performance reasoning index 46; behavioral problems; hyperactivity/ADHD; no anxiety; no microcephaly; MRI brain normal; febrile and absence seizures; EEG epileptic anomalies on parieto-temporal regions; no myopia; no strabismus; normal hearing; broad forehead, deep-set eyes, thick eyebrows; bilateral short 5th toe; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; no genitourinary findings 1 1 Johan den Dunnen
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