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Chunk #16 — CLINICAL PRESENTATION

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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
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of the children have eye defects, mostly hypermetropia or strabismus, but these abnormalities did not always result in visual impairment. A high anterior hairline is seen in five of eight patients of whom sufficiently detailed clinical information is available and one patient has a low hairline (Fig. 3). Seven of 10 patients have a prominent forehead. Other craniofacial features include ptosis, abnormal slant of palpebral fissures, wide nasal bridge, upturned nasal tip, and a thin upper lip. Six of nine patients have ear abnormalities, including small low-set ears, protruding cup shaped ears, and bilateral helical indentation.