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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease megalencephaly
Comorbidity C0020255|hydrocephalus
Sentences 4
PubMedID- 23338097 Presumably, the boy has hydrocephalus with macrocephaly, epilepsy, and mental retardation.
PubMedID- 23056871 Neurological manifestations of this disorder, which occur in 35–47% of patients [6], include hypotonia, macrocrania with or without hydrocephalus, psychomotor delay, apnea, sleep disorders, multisegmented compressive spinal syndromes, and foramen magnum stenosis [5].
PubMedID- 24903484 Reduction cranioplasty for macrocephaly with long-standing hydrocephalus and non-fused fontanelle in chiari malformation type i.
PubMedID- 21042520 The most common signs were macrocephaly with hydrocephalus and seizures.

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