All individuals with variants in gene SOX4

27 entries on 1 page. Showing entries 1 - 27.
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00222893 30661772-Pat1 PubMed: Zawerton 2019, Journal: Zawerton 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Italy - - - - - ID see paper; ..., intrauterine growth retardation, global developmental delay, intellectual disability, microbrachycephaly, epicanthus left eye, stellate iris pattern, short nose with anteverted nares, wide mouth with cupid bow, posteriorly rotated ear 1 1 Johan den Dunnen
00222894 30661772-Pat2 PubMed: Zawerton 2019, Journal: Zawerton 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Hungary;Scotland - - - - - ID see paper; ..., bilateral, vertical talus (surgically corrected in infancy), laryngomalacia, developmental delay, severe intellectual disability; severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00222895 30661772-Pat3 PubMed: Zawerton 2019, Journal: Zawerton 2019 - F no United Kingdom (Great Britain) - - - - - ID see paper; ..., very mild learning disabilities, deep-set eyes, infra-orbital grooves, flat nasal bridge, upturned nares, wide cupid-bow mouth, full lips, mild 5th finger clinodactyly and dysplastic 5th toenails 1 1 Johan den Dunnen
00222896 30661772-Pat4 PubMed: Zawerton 2019, Journal: Zawerton 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - ID see paper; ..., developmental delay, full-scale IQ 52, deep-set eyes, infra-orbital creases, malar flattening, upturned nares,, wide cupid-bow mouth, full lips, low setears posteriorly rotated, mild 5th finger clinodactyly and mild camptodactyly 1 1 Johan den Dunnen
00316163 K55 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - CAKUT unilateral kidney agenesis 1 2 Johan den Dunnen
00316176 K78 PubMed: Heidet 2017 affected fetus and 1st degree relative - - France - - - - - CAKUT bilateral kidney agenesis; external ear anomaly 1 2 Johan den Dunnen
00419883 Pat5 PubMed: Angelozzi 2022 2-generation family, 1 affected, mildly affected father F - - - - - - - NDD birth 40w; no IUGR; no failure to thrive; no hypotonia; global developmental delay; gross motor delay; fine motor delay; 9m-sit; >18 m-walk; speech delay; borderline intellectual disability IQ82; behavioral problems; hyperactivity/ADHD; no anxiety; on ADHD medication; occasional sleep issues; no microcephaly; no seizures; 3y-myopia; no strabismus; normal hearing; facial dysmorphism, high anterior hairline, slight upslant, full orbital ridge, cupid's bow and full lower lip, retrognathia; broad neck; bilateral 5th finger clinodactyly and brachydactyly of fingers and toes; 1.5m-perimembranous ventricular septal defect; no atrial septal defect; no patent foramen; widened aortic root with asymmetric tricuspid aortic valve; no gastrointestinal findings; no genitourinary findings 1 1 Johan den Dunnen
00419884 Pat6 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD birth 30w2d; no IUGR; failure to thrive; feeding difficulties; axial hypotonia; global developmental delay; gross motor delay; fine motor delay; 20-21m-sit; speech delay, 28m-first words (mama, dada); behavioral problems; hyperactivity/ADHD; no anxiety; stereotypies; no microcephaly; MRI brain hypoplastic cochlear nerves and possible absence of the inferior division of the vestibular nerves bilaterally; EEG mild diffuse background slowing consistent with diffuse encephalopathy of nonspecific etiology; no seizures; hypertonia of upper extremities, moves all extremities but no purposeful movement, no object tracking, mostly does not grasp objects, abnormal movements, likely stereotypies (did not correlate with seizures on video-EEG) since birth.; myopia; alternating esotropia; bilateral auditory neuropathy spectrum disorder vs. sensorineural hearing loss; facial dysmorphism, mild coarse facial appearance, bitemporal narrowing, bulbous nose tip; anteverted nares and low depressed nasal bridge, big cheeks; downturned corners of mouth; philtrum protudes with philtral pillars present, but poorly developed, narrow palate, mild retrognathia; broad secondary alveolar ridges, with normal labial philtrum; normal hands/feet; moderate-large ventricular septal defect; no atrial septal defect; patent foramen; bilateral superior vena cava; no gastrointestinal findings; no genitourinary findings 1 1 Johan den Dunnen
00419885 Pat7 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth 41w; no IUGR; no failure to thrive; no hypotonia; global developmental delay; gross motor delay; fine motor delay; 4m-sit; 17m-walk; speech delay, 42m-first words; behavioral problems; no hyperactivity/ADHD; no anxiety; sleep disturbance; no microcephaly; MRI brain simple supracentimetric cystic formation of the posterior left crossroads causing asymmetry of the occipital ventricular horns, normal corpus callosum; no seizures; myopia; no strabismus; tear duct obstruction; visual contact disorder; normal hearing; facial dysmorphism, small protrusion of the metopic suture, periorbital filling; bilateral epicanthus, full cheeks full; bulbous lips, cleft palate; bifid uvula; bilateral hypoplasia of 5th toe; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; hypospadias; frequent otis media, supernumerary nipples 1 1 Johan den Dunnen
00419886 Pat8 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth 39w; no IUGR; failure to thrive; hypotonia; global developmental delay; gross motor delay; fine motor delay; 6m-sit; 18m-walk; speech delay, 18m-37 lost words, 18m-first words; mild intellectual disability; behavioral problems; hyperactivity/ADHD; no anxiety; emotional lability; possible microbrachycephaly; MRI brain mega cisterna magna, multiple (4-5) scattered foci of nonspecific increased T2/FLAIR, signal abnormality in the bilateral periventricular white matter and left cerebellar dentate nucleus, no associated enhancement or restricted diffusion, normal corpus callosum; suspected complex partial seizures; EEG normal; wide-based and ataxic gait; no myopia; no strabismus; left amblyopia; hyperopia; astigmatism; unilateral conductive hearing loss and preauricular tag; dysplastic ossicles with normal cochlea and semicircular canal; facial dysmorphism, tall forehead, epicanthal folds, depressed nasal root;, bulbous nasal tip, long philtrum, cleft palate, right grade 3 microtia with auditory canal stenosis and preauricular tag but no facial asymmetry; no ventricular septal defect; no atrial septal defect; patent foramen; no vascular anomalies; no genitourinary findings; thin nails 1 1 Johan den Dunnen
00419887 Pat9 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD birth 38w; no IUGR; no failure to thrive; hypotonia; global developmental delay; gross motor delay; 8m-sit; 21m-walk; speech delay, slow progression of vocabulary, 12m-first words; mild intellectual disability; behavioral problems; no hyperactivity/ADHD; anxiety; no microcephaly; no seizures; hypertonia of ankles; myopia; intermittent exotropia; bilateral transient vision loss; normal hearing; facial dysmorphism, deep-set eyes, wide mouth with cupid’s bow, squared off, slightly low-set ears; advanced bone age; sacral dimple; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; history of epigastric pain and esophagitis; increased urinary frequency and occasional enuresis; frequent otis media, required 4-5 sets of ear tubes 1 1 Johan den Dunnen
00419888 Pat10 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth 38w; IUGR; no failure to thrive; hypotonia; global developmental delay; gross motor delay; fine motor delay; 10m-sit; 15m-walk; speech delay, 18m-first words; intellectual disability; behavioral problems; no hyperactivity/ADHD; no anxiety; breath-holding spells; no microcephaly; MRI brain dysgenesis of corpus callosum and bilateral semicircular canals; no seizures; no myopia; no strabismus; Mild low frequency hearing loss; no facial dysmorphism; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; pressure equalizing tubes in place 1 1 Johan den Dunnen
00419889 Pat12 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier mother F - - - - - - - NDD no failure to thrive; dysphagia; no hypotonia; speech delay; behavioral problems; no hyperactivity/ADHD; no anxiety; autism; difficulty with sleep; no danger awareness; no microcephaly; seizures; no myopia; intermittent exotropia; amblyopia; hyperopia; astigmatism; normal hearing; slightly prominent forehead, epicanthal folds; hypertelorism; deep-set eyes,, broad and flat nasal bridge; cupid's bow, high arched palate; ankles "pops" on examination; no ventricular septal defect; no atrial septal defect; patent foramen; mildly dilated aortic root and ascending aorta; constipation; congenital hydronephrosis, ureteral duplication, congenital ureterocele, stage 4 vesicoureteral reflux 1 1 Johan den Dunnen
00419890 Pat17 PubMed: Angelozzi 2022 - M - - - - - - - NDD birth 40w0d; no IUGR; poor weight gain as child; dysphagia; hypotonia; global developmental delay; gross motor delay; fine motor delay; 6m-sit; 17m-walk; speech delay, 24m-first words; borderline intellectual disability IQ~75; behavioral problems; hyperactivity/ADHD; anxiety; difficulty with rules; no seizures; myopia; strabismus; normal hearing; wide mouth with cupid’s bow, prominent ears; bilateral 5th finger clinodactyly; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; nocturnal enuresis; mild obstructive sleep apnea during childhood 1 1 Johan den Dunnen
00419891 Pat18 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth 41w0d; no IUGR; no failure to thrive; no hypotonia; global developmental delay; no gross motor delay; no fine motor delay; 15m-walk; speech delay, 12m-first words; mild intellectual disability, verbal IQ59, performance IQ73, unreliable test result because of behavioral issues; behavioral problems; hyperactivity/ADHD; no anxiety; aggression; no microcephaly; no seizures; no myopia; no strabismus; normal hearing; high and small palate; two café-au-lait maculae; large central tooth upper jaw; other primary teeth still in situ; plump hands with small 5th fingers; 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
00419892 Pat19 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth 39w; no IUGR; no failure to thrive; hypotonia; global developmental delay; gross motor delay; fine motor delay; 14m-sit; 20-21m-walk; speech delay, no words yet; behavioral problems; no hyperactivity/ADHD; no anxiety; 3y9m-formal autism diagnosis; hand flapping; bruxism; no microcephaly; MRI brain short and bulky corpus callosum, small non-specific right frontal t2 hyperintensity; no seizures; absent deep tendon reflexes; no myopia; convergent squint; normal hearing; metopic prominence; glabellar nevus flammeus, hypertelorism; medial epicanthic folds, anteverted nares; short columella; unilateral single transverse palmar crease; multiple ventricular septal defects; no atrial septal defect; no patent foramen; double aortic arch; bilateral superior vena cava; no gastrointestinal findings; no genitourinary findings 1 1 Johan den Dunnen
00419893 Pat20 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD birth 40w2d; no IUGR; no failure to thrive; no hypotonia; no global developmental delay; no gross motor delay; fine motor delay, struggles with handwriting; 15m-walk; speech delay, 2y-few single words, needed speech and language therapy, issues with sentence structure and clarity; mild intellectual disability, in Grade 1 on modified curriculum and with support 3-4 times per week; behavioral problems; hyperactivity/ADHD; no anxiety; socially immature/inappropriate; no microcephaly; no seizures; no myopia; no strabismus; exposure keratopathy; normal hearing; anterverted nares, wide mouth, mild retrognathia, mild posterior rotation of ears; normal hands/feet; ventricular septal defect; atrial septal defect; no patent foramen; abnormal pulmonary valve; chronic constipation; no genitourinary findings 1 1 Johan den Dunnen
00419894 Pat21 PubMed: Angelozzi 2022 - M - - - - - - - NDD birth 41w; no IUGR; no failure to thrive; hypotonia; global developmental delay; gross motor delay; fine motor delay; 6m-sit; 16m-walk; speech delay; borderline intellectual disability IQ72; behavioral problems; hyperactivity/ADHD; no anxiety; trichotillomania; depression; self-harming behavior; no microcephaly; no seizures; myopia; no strabismus; amblyopia; astigmatism; history of tear duct obstruction; normal hearing; hooded eyelids with downslanting palpebral fissures, prominent nasal bridge; broad nasal tip, deep philtrum; cupid's bow, low-set ears; bilateral pes planus; right ankle overpronation, pectus excavatum; no ventricular septal defect; no atrial septal defect; no patent foramen; anomalous coronary artery; choledochal cyst; hypospadias, chordee, nocturnal enuresis 1 1 Johan den Dunnen
00419895 Pat11 PubMed: Angelozzi 2022 - M - - - - - - - NDD birth 40w; no failure to thrive; no global developmental delay; no gross motor delay; no fine motor delay; 12m-walk; no speech delay; mild intellectual disability; no behavioral problems; hyperactivity/ADHD; no anxiety; no microcephaly; MRI brain T2 hyperintense focal lesions in the periventricular white matter adjacent to the frontal horn and the occipital horn of the left lateral ventricle, which could correspond to perivascular virchow-robin dilations, normal corpus callosum; full lips (similar feature in mother), low-set ears, abundant hair; bushy eyebrows; long eyelashes; scoliosis and ulna valgus; hypospadias, cryptorchidism 1 1 Johan den Dunnen
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
00419897 Pat14 PubMed: Angelozzi 2022 - M - - - - - - - NDD birth 35w; no IUGR; no failure to thrive; hypotonia; global developmental delay; gross motor delay; fine motor delay; 20m-walk; speech delay, 22m-first words; mild intellectual disability; no behavioral problems; no hyperactivity/ADHD; no anxiety; sleep issues, obstructive sleep apnea, restless leg; no microcephaly; MRI brain mild posterior periventricular and subcortical white matter, signal abnormality that could represent gliosis, normal imaging; no seizures; EEG normal; concern for seizures, routine EEG normal, workup ongoing; exotropia; glasses full time; normal hearing; broad forehead, downslanting palpebral fissures, pointed chin, low-set posteriorly rotated ears; normal hands/feet; no ventricular septal defect; no atrial septal defect; no patent foramen; bicuspid aortic valve and mild aortic dilation; no gastrointestinal findings; no genitourinary findings 1 1 Johan den Dunnen
00419898 Pat15 PubMed: Angelozzi 2022 - M - - - - - - - NDD birth 41w; IUGR; poor growth during childhood (4-9y growth hormone treatment); hypotonia; global developmental delay; no gross motor delay; 12m-walk; speech delay, 14m-first words; mild intellectual disability, WISC-III, total IQ47; verbal comprehension index 59, performance reasoning index 46; behavioral problems; hyperactivity/ADHD; no anxiety; no microcephaly; MRI brain normal; febrile and absence seizures; EEG epileptic anomalies on parieto-temporal regions; no myopia; no strabismus; normal hearing; broad forehead, deep-set eyes, thick eyebrows; bilateral short 5th toe; 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
00419899 Pat16 PubMed: Angelozzi 2022 2-generation family, 1 affected, mildly affected mother M - - - - - - - MYP, NDD birth 40w; no IUGR; failure to thrive; picky eating, weight loss; hypotonia; global developmental delay; gross motor delay; fine motor delay; 10-11m-sit; 36m-walk; speech delay, 11m-first words; intellectual disability, IQ not formally assessed by neuropsychologist; behavioral problems; no hyperactivity/ADHD; no anxiety; no microcephaly; MRI brain normal; EEG normal; headaches with emesis 2-3 days a week; Prescribed glasses, presumably because of myopia; no strabismus; normal hearing; broad forehead, small palpebral fissures, triangular face with pointed chin, low-set and posteriorly rotated ears; skin lesions (tags vs nevi); 5y-poor dentition with pulpectomy and crowns; slender fingers with broader thumbs and halluxes, prominent heels; 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
00436401 269706 - - M no Germany - - - - - CSS10 Delayed speech and language development, Intellectual disability, borderline, Hypotonia, Patent foramen ovale, Pulmonic stenosis, Atypical behavior, Epicanthus, Wide nasal bridge, Long philtrum, Wide mouth, Sandal gap 1 1 Andreas Laner
00448540 3bINP-001 PubMed: Vela-Amieva 2024 Incidental finding F no Mexico - - - - - CSS10 - 1 1 Miriam Erandi Reyna-Fabián
00452991 - - - - - - - - - - - ATFB Dental developmental abnormalities and hypoplastic fifth distal phalanges/nails as well as mild facial dysmorphisms characterized by a bulbous nasal tip and micrognathia. 1 1 Yi-Qing Yang
00460325 Pat17 PubMed: Karimi 2025 - M - - - - - - - SIHIWES motor delay; speech delay; intellectual disability; hyperactivity; ECG normal; Undescended testis; scoliosis 1 1 Johan den Dunnen
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