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Chunk #15 — CLINICAL PRESENTATION

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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
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Family history was unremarkable in each case. At the time of birth, the parental ages were in the normal range. None of the couples were consanguineous and no affected siblings have been observed. All children were born at term with birth weight, length, and occipitofrontal circumference in the normal range. Developmental milestones were delayed in all patients. They could sit between 7.5 months and 12 months and walked independently between 19 months and 4.5 years old. All of them have speech problems including one patient that has never developed speech and is now 8.5 years old. Seven of 11 patients have had feeding difficulties, including decreased sucking or chewing and abnormally increased appetite. Bladder training was delayed in five patients. In infancy, eight children have had hypotonia and two have had seizures, but without abnormalities on EEG. More than half 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