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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease febrile seizures
Comorbidity C0037317|sleep disturbance
Sentences 1
PubMedID- 25844147 Sat at normal age, walked at 22 mo13 y: w +3.5 sd, h +2 sd, macrocephaly (+4.2 sd)mild dysmorphic features, narrow palpebral fissures, short philtrum, large hands and feet, one café-au-lait spotstereotypies, self-injurious behavior, sleep disturbance, one episode of febrile seizure at 31 mo, normal eegchiari type i malformation, mild white matter hyperintensities (at 9 y)6a46,xx,inv(9)(p11q13)dn (benign cytogenetic variant)f7 yautism (adi-r)intellectual disabilityisolated wordsborn at term, w +0.5 sd, h +0.9 sd.

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