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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease megalencephaly
Comorbidity C0270612|leukoencephalopathy
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PubMedID- 23772256 The differentials considered for macrocephaly with diffuse leukoencephalopathy include canavan disease, alexander disease, infantile onset gm2 gangliosidosis, occasionally infantile onset gm1 gangliosidosis, l-hydroxy glutaric aciduria, and a congenital muscular dystrophy called merosin deficiency (mdc1a).

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