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. 2015 Aug 11;10(8):e0134997. doi: 10.1371/journal.pone.0134997

Table 1. Clinical characteristics of previously reported cases carrying a BP3-BP5 deletion.

Case Clinical characteristics Reference
1 Epilepsy, mild learning difficulties, lax thumb joint, squint, developmental delay [36]
2 Severe learning difficulties, autism, moderate language delay [38]
3 Epilepsy [39]
4 Hypotonia, dyspraxia, autism [40]
5 Epilepsy, learning difficulties, microcephaly, growth <3rd centile, reduced hemisphere volume, psychomotor retardation, optic nerve atrophy? [41]
6 Low birth weight, natal teeth, heart murmur, microcephaly, delayed speech and walking, poor attention [42]
7 Epilepsy, Mild learning difficulties [43]
8 Moderate intellectual disability, obesity, ADHD, hypotonia, delayed speech, strabismus [26]