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中文Rajab Interstitial Lung Disease with Brain Calcifications 1 (RILDBC1)
Alias:
Rajab Interstitial Lung Disease with Brain Calcifications
Rajab Syndrome
Rildbc1
Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications, Formerly
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities, Formerly
Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities
Nedblla, Formerly
Nedblla
Rildbc
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拉贾布间质性肺病伴脑钙化1，又称拉贾布间质性肺病伴脑钙化，与拉贾布间质性肺病伴脑钙化2和脑视网膜微血管钙化和囊肿1有关，症状包括头痛。与拉贾布间质性肺病伴脑钙化1有关的重要基因是FARSB（苯丙氨酸-TRNA合成酶亚基β）。相关组织包括肺和脑，相关表型为癫痫发作和发育不良。
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