All individuals with variants in gene SOBP

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00419896 Pat13 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier mother M - - - - - - - NDD birth 40w2d; no IUGR; poor growth during childhood (12y-resolved); hypotonia; global developmental delay; no gross motor delay; no fine motor delay; 9m-sit; 13m-walk; speech delay; mild intellectual disability, 10y9m-WISC-IV, verbal comprehension index 67, perceptual reasoning index 53; behavioral problems; hyperactivity/ADHD; no anxiety; 7y-oppositional defiant disorder; no microcephaly; no seizures; heel-walking associated with right upper extremity posturing; myopia; no strabismus; normal hearing; epicanthal folds, broad nasal bridge, thin upper lip, mildly atypical pinnae; atypical antihelix; mild superior posterior skull flattening; normal hands/feet; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; no genitourinary findings 1 1 Johan den Dunnen
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