All individuals with variants in gene CA2

10 entries on 1 page. Showing entries 1 - 10.
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AscendingIndividual ID     
ID_report     
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Treatment     
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Owner     
00080871 - PubMed: Trujillano 2017 no information from parents - - - - - - - - OPTB3 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis (OMIM:259730) 1 1 Daniel Trujillano
00080918 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - OPTB3 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis (OMIM:259730) 1 1 Daniel Trujillano
00331337 08DG00093, 15DG2215, 15DG2216 PubMed: Maddirevula 2018 family, 3 affected (3F) F yes - Arab - - - - skeletal dysplasia Osteopetrosis, Intellectual disability, Failure to thrive, eczema, Recurrent infections, PersisYes 1 3 LOVD
00331338 15DG0629 PubMed: Maddirevula 2018 family F no - Arab - - - - skeletal dysplasia Recurrent fractures, Renal tubular acidosis, Intellectual disability, Cerebral calcification, HyNo 1 1 LOVD
00331339 11DG1498, 10DG1696, 10DG1499 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Osteopetrosis 1 2 LOVD
00361588 15DG2215 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - ID not syndromic; intellectual disability, osteopetrosis, delayed dentition, skin infections 1 1 Johan den Dunnen
00387897 M9100002 PubMed: Hu 2019 family, 2 affected individuals, third cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly, epilepsy 1 2 Johan den Dunnen
00408090 115 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - - - - retinal disease 4 years old girl with uncomplicated perinatal course. During infancy she was found to have failure to thrive, metabolic acidosis, and developmental delay; and diagnosed to have renal tubular acidosis. Chest X-ray showed generalized increased bone density. Her medical history is also significant for asthma. Her parents were cousins and she had three healthy brothers and one similarly affected sister. 1 1 LOVD
00434153 - - - F likely Brazil - - - - - OPTB3 osteopetrosis, renal tubular acidosis, cerebral calcification, blindness, deafness, development delay, amelogenesis imperfecta 1 1 Juliana Mazzeu
00438616 HSC0089 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
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