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Table 2 Clinical findings in patients with intragenic deletions/duplication in this study

From: Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

Cases Sex Dysmorphism Neurological problems GDD/Autism/speech delay Other organ abnormalities/disorders
1 F None None GDD Hypotonia, feeding problems, eczema, bilateral renal reflux and dilatation, episodes of fussiness and gassiness, chronic constipation, a diagnosis of Mowat-Wilson syndrome
2 M Macrocephaly None GDD, Autism Hypothyroid at birth, history of lactic acidosis
3 M None Epilepsy None Gastroesophageal reflux, voiding dysfunction and nocturnal enuresis, and adenoid hypertrophy
4 M Severe microcephaly Perinatal hypoxic ischemic encephalopathy with resultant severe cystic encephalomalacia, focal epilepsy, cerebral palsy, asymmetric spasticity GDD, especially speech delay None
5 F None None None Bicuspid aortic valve with aortic dilation, anomalous superior left pulmonary venous return
6 M Macrocephaly None Severe GDD Hypotonia, kyphosis
7 M None Encephalopathy Alexia, dyslexia Short stature
8 M None Epilepsy Mild developmental delay, speech delay Hypospadias
9 M Macrocephaly Poorly developed corpus callosum Severe GDD Hearing impairment, hypernatremia and renal insufficiency, a diagnosis of mild hemophilia A
10 F None None None Hypotonia, tracheal malasia,
11 F Plagiocephaly and infantile torticolli Epilepsy, abnormal EEG with a slow background and temporal spikes, and staring spells GDD, especially speech delay Hearing impairment
12 F None Epilepsy Intellectual disability, aggressive behavior None
13 M Severe microcephaly and micrognathia Epilepsy, ventriculomegaly None Paralyzed vocal cords, bilateral equinovarus, contractures of knees and hips bilaterally
14* M None None NA Atrioventricular canal, transposition of the great arteries, pulmonary valve atresia, supraventricular tachycardia, and congenital absence of spleen
  1. Notes: *-newborn; M male, F female, GDD global developmental delay, EEG electroencephalogram, NA not applicable.