All individuals with variants in gene CHD4

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00100263 - PubMed: Weiss 2016 - M - - - - - - - SIHIWES see paper; ..., Intellectual disability, hearing loss, macrocephaly, bifid uvula, hypogonadotrophic hypogonadism, congenital stroke with moya moya disease 1 1 Karin Weiss
00100264 - PubMed: Weiss 2016 - F - - - - - - - SIHIWES see paper; ..., Intellectual disability, hearing loss, dysmorphic features, cervial vertebrae fusion, tarsal coalition 1 1 Karin Weiss
00100270 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - SIHIWES no social smile, sit 13m, walk 2-2.5y, 1st words 2-2.5y, length 94 cm (SD 0.18), OFC 48 cm (SD 2.32), aortic coarctation, sparse eyebrow, thin upper lip vermilion, upslanted palpebral fissure, global developmental delay, motor delay, no seizures, unilateral ptosis, bilateral sensorineural hearing impairment, normal thoracic cavity, wide intermamillary distance, sacral pit, normal limbs 1 1 Johan den Dunnen
00100271 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - SIHIWES intial clinical diagnosis Coffin-Lowry, Aarskog, Albrights, UPD14, DiGeorge, OFC 57.7 cm (SD 0.62) , interatrial communication (ASD) and ventricular septal defect, gait imbalance, Arnold-chiari malformation, hypermetropia, abnormality ear, cryptorchidism, cutaneous finger syndactyly, limited elbow extension, broad clavicles, flat acetabular roof, glenoid hypoplasia, lunate-triquetral fusion, short clavicles, short femoral neck 1 1 Johan den Dunnen
00100272 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - SIHIWES intial clinical diagnosis Schinzel Giedion, social smilenot yet achieved, sit n ot yet achieved, walk not yet achieved, 1st words not yet achieved, Tetralogy of Fallot, abnormal facial shape, coarse facial features, low-set ears, Abnormality of earlobe, Wormian bones, omphalocele, ambiguous genitalia, anteriorly placed anus, poor corticomedullary differentiation on USS of kidneys, small nail, cholesterol abnormalities also considered 1 1 Johan den Dunnen
00100273 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - F - - - - - - - SIHIWES walk 5y, length 132 cm (SD -1.08), weight 37.4 kg (SD 0.72), OFC 58.2 cm (SD 3.52), pulmonary valvar abnormality, Ventricular septal defect and Interatrial communication (ASD), abnormal facial shape, global developmental delay, motor delay, Arnold-Chiari malformation, hydrocephalus, syringomyelia, astigmatism, postaxial polydactyly (hands), anteriorly placed anus, recurrent urinary tract infections 1 1 Johan den Dunnen
00100274 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - SIHIWES sit 11m, walk 2-2.5y, 1st words 11m, length 117 cm (SD -0.09), weight 22.25 kg (SD 0.33), OFC 51 cm (SD -1.47), Tetralogy of Fallot, trigonocephaly, epicanthus, motor delay, moderate intellictual disability, vesicoureteral reflux, cryptorchidism, feeding difficulties in infancy 1 1 Johan den Dunnen
00100275 - PubMed: Weiss 2016, Journal: Weiss 2016 - M - - - - - - - SIHIWES see paper; ..., 1 1 Karin Weiss
00100276 - PubMed: Weiss 2016, Journal: Weiss 2016 - F - - - - - - - SIHIWES see paper; severe developmental delay, growth delay, submucous cleft palate, cervical vertebrae fusion and tarsal coalition, VAS, ASD, PDA, bilateral renal pelviectasis , hydroureter, and a VCUG detected bilateral severe (grade 4) reflux. 1 1 Karin Weiss
00100277 - PubMed: Weiss 2016, Journal: Weiss 2016 - M - - - - - - - SIHIWES see paper; ..., 1 1 Karin Weiss
00100278 - - - - - Germany - - - - - SIHIWES Mild intellectual disability, macrocephaly, hypogonadotrophic hypogonadism, sagittal carniosynostosis. 1 1 Karin Weiss
00100279 - - - - - Germany - - - - - SIHIWES Developmental delay, growth delay, pulmonary stenosis 1 1 Karin Weiss
00310868 Fam357 PubMed: Rauch 2012 controls M - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00363896 179137 - - M ? Bosnia and Herzegovina - - - - - SIHIWES Malposition of fingers, foot deformity, exophthalmos, neck oedema, ventriculomegaly, hypogenitalism, undescended testis, cardiac: ASD, VSD, cardiac arrhythmia, heart structurally normal, supraventricular tachycardia, maturation delay according to EEG, cMRI with ventriculomegaly and septa in the ventricles, dysphagia 1 1 Andreas Laner
00405806 193621 - - F - Germany - - - - - SIHIWES Neurodevelopmental delay, Global developmental delay, Motor delay, Hypotonia, Abnormal facial shape, Abnormal muscle tone 1 1 Andreas Laner
00416249 Pat14 PubMed: Monroe 2016 - F - Netherlands - - - - - ? macrocephaly (+2.5 SD), hypertelorism, remarkable hyperlaxity of the finger joints, and relatively small ears; fused cervical vertebrae C2-C6, bilateral total tarsal coalition, and psychomotor retardation; MRI brain Chiari 1 malformation; conductive hearing loss 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
00450469 - - - M - - (not applicable) white - - - - ID HP:0004322, HP:0000518, HP:0012758, HP:0000028 1 1 Marketa Wayhelova
00453791 BAV315 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD aortic root replacement and aortic valve replacement; large root aneurysm 1 1 Johan den Dunnen
00453792 BAV328 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD coarctation repair; coarctation, dextrocardia, mitral valve prolapse 1 1 Johan den Dunnen
00460297 Pat20 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 8.5y 130.5cm (53%), weight 8.5y 34.2kg (87%), OFC 8.5y 54.5cm (94%); mild motor delay; speech delay, 4y-first word; borderline intellectual disability (IQ 83); autism, attention-deficit/hyperactivity disorder, mood disturbance, dysgraphia; hypotonia; MRI brain normal; no hearing loss; corrective lenses; ECG normal; micropenis; lumbar lordosis, hyperlaxity, borderline lumbosacral spondylolisthesis, Flatfoot; widely spread upper teeth, crowded lower teeth; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460298 Pat21 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 4y 102.87 cm (56%), weight 4y 15.4 kg (30%), OFC 3y 50.3 cm (66%); motor delay; speech delay; autism; hypotonia; MRI brain normal; no hearing loss; corrective lenses,- astigmatism; ECG normal; no urogenital anomalies; hypothyroidism; no skeletal anomalies; no dental anomalies, no palatal anomalies; gastroesophagial reflux disease, gastroparesis; prematurity 29gw+5; respiratory distress; obstructive sleep apnea 1 1 Johan den Dunnen
00460299 Pat15 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 6y 118.4 cm (75%), weight 6y 25.5 kg (88%), OFC 6y 51.3 cm (64%); mild motor delay (mainly gros motor skills); slight speech-delay, is improving; no intellectual disability (IQ 104); no behavioral anomalies; no hypotonia; conductive hearing loss (left ear), hearing aid; hypermetropia normal; atrial septal defect secundum, bicuspid aortic valve, mild aortic regurgitation, slight pulmonary stenosis; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460300 Pat23 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 99%, weight 88%, OFC 97%; motor delay; speech delay; borderline intellectual disability (IQ 80); autism; mild hypotonia; MRI brain normal nonspecific T2 hyperintense focus, otherwise normal; no hearing loss; corrective lenses; ECG normal; no urogenital anomalies; heel cord tightness, intermittent lower extremity pain and fatigue, frequent falls and reduced stamina; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460301 Pat29 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 8y 143 cm (SD +2.5), weight 10y 62 kg (SD +3.3), OFC 10y 58 cm (SD +3.6); 2y4m-motor delay; speech delay; moderate intellectual disability; no behavioral anomalies; generalized epilepsy; MRI brain normal; no hearing loss; normal vision; ECG normal; micropenis; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460302 Pat30 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 17y 170 cm (34%); motor delay; speech delay; mild intellectual disability (IQ 70); autism, attention-deficit/hyperactivity disorder, anxiet, depression; no hypotonia; no hearing loss; normal vision; no urogenital anomalies; lordosis lumbosacral. Kyphoscoliosis with scoliosis; no dental anomalies, no palatal anomalies; Constipation with encopresis 1 1 Johan den Dunnen
00460303 Pat24 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 5.5y 112cm (60%), weight 5.5y 21kg (70%), OFC 5.5y 55cm (+3.1SD); motor delay, 2y6m-walk; speech delay, 3y-first words; mild intellectual disability; autism; no hypotonia; ECG normal; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; occasional consiptation 1 1 Johan den Dunnen
00460304 Pat11;Pat10 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 10y 137 cm (40%), OFC 10y 49.7 cm (SD -2.4); motor delay; speech delay; moderate intellectual disability; no behavioral anomalies; no hypotonia; MRI brain dysmorphic skull, microcephaly, otherwise normal; hearing within normal limits, except for mild-moderate dip at 6 and 8kHz; normal vision; atrial septal defect, pulmonary stenosis; Undescended testis; hypothyroidism, type 1 diabetes; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460305 Pat31 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 6 y and 10 m 113.4cm (11%), weight 6 y and 10 m 15.7kg (SD -2.4), OFC 6 y and 10 m 47.5 cm (-3 SD); motor delay, 2y-walk; speech delay, 15m-concerns about speech; intellectual disability; no behavioral anomalies; 3y6m-seizures, generalised, now 3y seizure free with treatment, mild central hypotonia; MRI brain mild cerebellar atrophy with prominence of cerebellar folia and fourth ventricle; no hearing loss; normal vision; ECG normal; no urogenital anomalies; congenital hypothyroidism; significant forefoot adductus bilat; no dental anomalies, no palatal anomalies; NG feeding for a few weeks due to prematurity; intrauterine growth restriction, oligohdramnios, late prematurity 1 1 Johan den Dunnen
00460306 Pat11 PubMed: Karimi 2025 - F - - - - - - - SIHIWES OFC 0.35 SD; motor delay; speech delay; no intellectual disability; no behavioral anomalies; no hypotonia; MRI brain 18m-normal; unilateral sensorineural hearing loss; Small esotropia and mild amblyopia, slightly hyperopic, central cupping optic nerves; ECG normal; no urogenital anomalies; growth of pubic hair, no breast development, no other signs of early puberty; no skeletal anomalies; no dental anomalies, no palatal anomalies; constipation; bilateral preauricular skin defects due to focal dermal dysplasias type 4 1 1 Johan den Dunnen
00460307 Pat32 PubMed: Karimi 2025 - M - - - - - - - SIHIWES regular growth on the median, normal weight, OFC normal; motor delay, 1y10m-walk; speech delay, 2y2m-talks; no behavioral anomalies; hypotonia; MRI brain normal thinned corpus callosum, slightly thin optic tracts and a small pituitary gland; normal vision; fetal heart rhythm anomaly, no current rhythm disorder; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; feeding problems; fetal heart rhythm anomaly; myofunctional feeding disorder related to mouth breathing and low orofacial muscle tone 1 1 Johan den Dunnen
00460308 Pat13;Pat2 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 30y 185cm (88%), weight 30y 68.5 kg (47%), OFC 30y 57 cm (91%); motor delay, 1y6m-walk; speech delay; mild intellectual disability; no behavioral anomalies; hypotonia; MRI brain ventricular dilatation, Arnold-Chiari type 1; sensorineural hearing loss; myopia; mitral valve prolapse; no urogenital anomalies; scoliosis, pes cavus; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460309 Pat33 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 13y 1.35 cm (-3.2 SD), weight 13y 32 kg (-2SD), OFC 13y 51.5cm (5%); motor delay, 2y6m-walk; speech delay, 4y-talks (today speech is normal); no intellectual disability; no behavioral anomalies; no hypotonia; MRI brain Chiari malformation type 1, hyperdensity of foramen magnum; astigmatism, hypermetropia, s/p 2y-strabismus corrective surgery; aortic coarctation, S/P 4y-surgical repair; small kidneys and recurrent UTI; bone age 2y late, delayed puberty; no skeletal anomalies; Severe dental cavities, abnormal dentin, abnormal teeth location, dental crowding; feeding dificulties and slow weight gain in infancy. Fatty pancreas per US and rectal bleeding of unknown origin; spontaneous hematomas and platelets dysfunction of unknown cause 1 1 Johan den Dunnen
00460310 Pat34 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 2y 86 cm (36%), weight 2y 17.6 kg (SD +3.1), OFC 2y 51 cm (95%); motor delay, 1y-crawl, 16m-pull to stand, 21m-walk, 2y-not running, delayed fine motor skills; speech delay, 2y-babbles and noises, no words; no behavioral anomalies; hypotonia; MRI brain normal; bilateral moderate/severe conductive and sensorineural hearing loss; Right sided Horner syndrome; ECG normal; Undescended testes, micropenis; testosterone treatment; Small hands and feet, tapering fingers; no dental anomalies, no palatal anomalies; feeding problems; Tongue tie repaired; feeding issues -poor swallowing with choking, eats mashed foods; hyperphagia and reduced satiety; 9m-persistent wet cough, multiple courses of abx 1 1 Johan den Dunnen
00460311 Pat35 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 4 y 7 m 101 cm (22%), weight 4 y 7 m 33.8 kg (SD +5.2), macrocephaly; motor delay; speech delay; intellectual disability; no behavioral anomalies; hydrocephalus (s/p ventriculoperitoneal shunt placement), syrinx, hypotonia; non-ambulatory; MRI brain shunted hydrocephalus, +syrinx (C3-T9), stable ventricles; no hearing loss; Optic atrophy; patent ductus arteriosus s/p ligation; no urogenital anomalies; no adrenal insufficiency or hypogonadism; no skeletal anomalies; no dental anomalies, no palatal anomalies; Gut malrotation s/p Ladd procedure; 1 1 Johan den Dunnen
00460312 Pat26 PubMed: Karimi 2025 - M - - - - - - - SIHIWES motor delay; speech delay; intellectual disability; autism; no hypotonia; MRI brain cerebral atrophy more pronounced frontal lobes, discrete atrophy hippocampi, mild/moderate dilatation ventricles, with narrowing cerebral aqueduct upper ends; normal vision; ECG normal; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies; sleep problems 1 1 Johan den Dunnen
00460313 Pat36 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 15y 160.4 cm (13%), weight 15y 70.8 kg (85%), OFC 15y 56.5 cm (86%); motor delay, 1y10m-walk; speech delay, 6y-1st word; intellectual disability; autism. attention-deficit/hyperactivity disorder. Emotional and Sensory sensitivity. High pain tolerance.; Mild left hemiparesis, of undetermined cause. Possibility of stroke.; MRI brain 1y-normal; no hearing loss; strabismus, astigmatism, optic nerves small, not hypoplastic; Abbreviations: NMD (nonsense mediated mRNA decay), ID - intellectual disability; sex - F/M - female / male; atrial septal defect - atrial septal defect; atrial septal defect II - atrial septal defect secundum; SD - standard deviation; HC - head circumference; W - weight; H - height; NA - not applicable; UTI - urinary tract infection; patent ductus arteriosus - patent ductus arteriosus; ventricular septal defect -; total anomalous pulmonary venous return - Total anomalous pulmonary venous return; aberrant right subclavian artery - Aberrant Right Subclavian Artery; obstructive sleep apnea - obstructive sleep apnea; GH - growth hormone; ADHD - r; MRI - magnetic resonance imaging; CSF - cerebrospinal fluid. ventriculoperitoneal shunt - ventriculoperitoneal shunt; ECG - electrocardiogram; patent foramen ovale - patent foramen ovale; IQ - intelligence quotient; aortic regurgitation - aortic regurgitation; PS - pulmonary stenosis; S/P - status post; CT - Computed Tomography; ADD -; Y - years; tonsillectomy and adenoidectomy -tonsillectomy and adenoidectomy; focal dermal dysplasias - focal dermal dysplasias; IUGR - intrauterine growth retardation; GERD -; respiratory distress syndrome - respiratory distress syndrome; retinopathy of prematurity - Retinopathy of Prematurity; SIHIWES - Sifrim–Hitz–Weiss syndrome; Undescended testis, s/p surgical correction.; short stature, growth hormone deficiency, hypogonadism, per parental report that was normalized after growth hormone treatment; scoliosis, kyphoscoliosis. s/p surgical correction.; dental - single central incisor (normal adult teeth). Prone to get cavities.; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460314 Pat18;Pat4 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 6y 99 cm (SD -3.2), weight 6y 14.6 kg (SD -2.7); motor delay; speech delay; intellectual disability; no behavioral anomalies; hypotonia; MRI brain normal thin corpus callosum; no hearing loss; strabismus, hypermetropia; multiple muscular ventricular septal defect and two atrial septal defect; Undescended testis; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460315 Pat37 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 31y 177.5 cm (55%) , weight 31y 206 kg (SD +8.5), OFC 31y 62.5 cm (SD +5.1); motor delay, 2y-walk, delayed fine motor skills; speech delay; mild-moderate intellectual disability; no behavioral anomalies; hypotonia; bilateral mild conductive hearing loss; normal vision; micropenis; Low testosterone, normal LH/FSH/prolactin; Small hands and feet; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies; Severe obstructive sleep apnea (BIPAP/Oxygen); tonsillectomy and adenoidectomy in childhood; Type 2 diabetes; Hypertension 1 1 Johan den Dunnen
00460316 Pat5 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 22y 157cm (17%), weight 22y 70 kg (78%), OFC 22y 58cm (SD +3.3); motor delay; speech delay; mild intellectual disability; no behavioral anomalies; no hypotonia; MRI brain normal; conductive and sensorineural deafness (bilateral), needing hearing aids; strabismus needing surgery; atrial septal defect and anomalous pulomary venous return; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460317 Pat7 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 17y 150 cm (3%), boneage similar as chronological age, weight 17y 50 kg (24%), OFC 17y 51.5 cm (SD -2.6); motor delay, 3y-walki; speech delay, 3-4y-first words; moderate intellectual disability (IQ 50); no behavioral anomalies; no hypotonia; MRI brain boradened extracerebral space around vermis; no hearing loss; excavation of papil in right retina (atypic coloboma?), some tortuosity venes; Heterotaxia, right isomerism, total anomalous pulmonary venous return, ventricular septal defect, pulmonary atresia and hypoplastic pulmonary root; no urogenital anomalies; Late puberty and relatively low bone mineral density (Z score -2.1); normogonadotrophic oligomenorrhea; cubiti valgi; hands: Fusion os hamatum with os capitatum; valgus position of knees for which surgical correction was performed; Some caries, narrow palate; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460318 Pat19;Pat8 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 10y 143 cm (74%), weight 10y 56 kg (SD +2.64), OFC 10y 56 cm (SD +2.2); motor delay, 1y8m-walk; speech delay, 2y6m-first words; mild-moderate intellectual disability; no behavioral anomalies; congenital stroke, moyamoya; MRI brain enlarged lateral ventricles, moyamoya; conuctive hearing loss; normal vision; ECG normal; Undescended testes, micropenis; Hypogonadotrophic hypogonadism; Advanced bone age by 2-3 years; Bifid uvula; no gastrointestinal anomalies; aneuresis, Hemoglobin-F 4.3% 1 1 Johan den Dunnen
00460319 Pat9 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 17.5y 147 cm (SD -2.4), weight 17.5y 61 kg (65%), OFC 17.5y 58 cm (SD +3.3); motor delay, 2y-walk; speech delay, 3y-talks; mild intellectual disability; no behavioral anomalies; mild hypotonia, shunt placement and decompression; MRI brain Chiari malformation, hydrocephalus; no hearing loss (VT at childhood due to conductive hearing loss); normal vision; aberrant right subclavian artery with pressure on esophagus, small patent ductus arteriosus, spontaneous closure.; no urogenital anomalies; primary amenorrhea; scoliosis (bracing treatment), mild genu valgumbil, leg length discrepance 1 cm; no dental anomalies, no palatal anomalies; aberrant right subclavian artery with pressure on esophagus; aspiration pneumonia due to aberrant right subclavian artery; obstructive sleep apnea needing BPAP; s/p tonsillectomy and adenoidectomy twice; Vocal cord paralysis; 1 1 Johan den Dunnen
00460320 Pat38 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 14y 159 cm (28%), weight 14y 80 kg (SD +2.1), OFC 14y 59 cm (SD +2.9); motor delay, 1.7y-walk; speech delay; mild intellectual disability; no behavioral anomalies; 1st year hypotonia; MRI brain Chiari type 1 with moderate-severe ventriculomegaly and platybasia, vestibular acqueduct dilatation bilateray; bilateral neurosensorial hearing loss; normal vision; ECG normal; Undescended testis; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460321 Pat39 PubMed: Karimi 2025 - M - - - - - - - SIHIWES weight 4.8y 19.1 kg (76%), OFC 4.8y 53.5 cm (SD +2); motor delay; speech delay; no behavioral anomalies; hypotonia; MRI brain normal pineal cyst which remained unchanged, otherwise normal; no hearing loss; left optic nerve hypoplasia; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460322 Pat13 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 11y 154cm (91%), weight 11y 59.2kg (97%), OFC 11y 58.5cm (SD +4.3); motor delay, 14m-crawl, 2y9m-first steps, dyspraxia; speech delay, 1y6m-2 words; no intellectual disability; attension deficit disorder (on Concerta); hypotonia; MRI brain Chiari malformation type 1, moderate ventriculomegaly, enlargement of subarachnoid spaces; bilateral sensorineural deafness requiring hearing aids.; Amblyopia, ptosis, astigmatism, strabismus.; pulmonary stenosis, perimembranous ventricular septal defect; small kidneys for age. Renal cyst later reported by parents.; 12m-normal endocrine evaluation; Pes planovagus, short 3rd toe bilaterally, genu valgum.; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies 1 1 Johan den Dunnen
00460323 Pat14 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 27y 162.3 cm (44%), weight 27y 60 kg (57%), OFC 27y 56 cm (94%); motor delay, 12m-sit; speech delay; mild intellectual disability; no behavioral anomalies; inital hypotonia; CT head bilateral ventriculomegaly with extra axial fluid; no hearing loss; Right eye ptosis and hypertelorism, no visual concerns; bicuspid aortic valve, aortic stenosis, aortic insufficiency, left ventricular hypertrophy; renal US not performed; 15y-delayed menstruation, very scant periods; short heel cords requiring leg braces, tapered fingers, pes planus; slightly high arched palate with dental crowding; Gut malrotation and repaired abdominal hernia, esophageal strictures.; clinically diagnosed with Noonan syndrome many years ago; hyper-nasal voice 1 1 Johan den Dunnen
00460324 Pat16 PubMed: Karimi 2025 - F - - - - - - - SIHIWES In the 7th percentile, weight 92nd percentile, macrocephaly (resolved) OFC 58th percentile; upper extremity hypertonia; esotropia; patent foramen ovale; metopic ridging, overlapping toes; submucosal cleft palate; umbilical hernia; Prenatal multi substances exposure; sickle cell trait; inverted nipples 1 1 Johan den Dunnen
00460325 Pat17 PubMed: Karimi 2025 - M - - - - - - - SIHIWES motor delay; speech delay; intellectual disability; hyperactivity; ECG normal; Undescended testis; scoliosis 1 1 Johan den Dunnen
00460326 Pat18 PubMed: Karimi 2025 - M - - - - - - - SIHIWES no motor delay; speech delay; mild intellectual disability (IQ 61); no behavioral anomalies; no hearing loss; 1 1 Johan den Dunnen
00460327 Pat19 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 3 y 8 m 89.5 cm (SD -2.6), weight 3 y 8 m 13.3 kg (7%), OFC 3 y 8 m 52 cm (90%); motor delay, 1y-crawl, 2y-walk, 3y8m-cannot jump, palmar grasp of objects, hand feeds; speech delay, 3y8m-short phrases/sentences, clarity issues; meltdowns, screaming, aggression.; epilepsy; MRI brain normal ventriculomegaly, hypoplastic corpus callosum, absent septum pellucidum, mega cisterna magna, absent posterior pituitary, bright spot but normal optic nerves; no hearing loss; high myopia, astigmatism, LT squint; ECG normal; normal IGF1; LT 3/4 finger skin syndactyly; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies; extreme-prematurity (23gw+2); respiratory distress syndrome, home oxygen; retinopathy of prematurity; inguinal hernia bil - (extreme prematurity) 1 1 Johan den Dunnen
00460328 Pat28 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 9y 145 cm (97%), weight 9y 58 kg (SD +3.6); motor delay; speech delay; intellectual disability; episodes of irritability/screaming, episodes of tiredness, staring, episodes of aggressive/self-injurious behavior; MRI brain normal normal 2021, MRI brain 2012 demonstrated prominent anterior CSF spaces; atrial septal defect; hypoglycemia, mild elevation of lactic acid; joint pain; feeding difficulties and poor weight gain in early life but now overweight; episignature testing in parents mother positive for SIHIWES 2 1 Johan den Dunnen
00460593 Pat1 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay; speech delay; no hearing loss; no palatal anomalies; syndactyly, abnormal thumb; no undescended testis, no micropenis; no growth hormone deficiency; ECG tetralogy of Fallot; redundant supra-arytenoid tissue, subglotic stenosis, inguinal hernia 1 1 Johan den Dunnen
00460594 Pat2 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay, 27m-walk; speech delay; mild intellectual disability; no hand anomalies; undescended testis, no micropenis; ECG tetralogy of Fallot; trigonocephaly, feeding difficulties in infancy, vescicoureteral reflux 1 1 Johan den Dunnen
00460595 Pat3 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay, 24m-walked; speech delay; hypotonia; mild intellectual disability (IQ 63); sensorineural hearing loss; no palatal anomalies; brachydactyly; no hypogonadotrophic hypogonadism; no growth hormone deficiency; stiff hips; MRI brain Arnold chiari type 1, hydrocephalus, cervicothoracic syringomyelia; ECG normal; strabismus, astigmatism, hypermetropia; underwent VP shunt, occipitocervical decompressio; overweight; insulin resistency; gastric sleeve procedure; hypertension; 12y-menarche 1 1 Johan den Dunnen
00460596 Pat4 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay; speech delay; hypotonia; moderate intellectual disability; no hand anomalies; stiff legs; MRI brain dilated temporal horn right ventricle; autism 1 1 Johan den Dunnen
00460597 Pat5 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no motor delay; speech delay; intellectual disability; Cleft palate, Pierre Robin; no hand anomalies; no undescended testis, no micropenis 1 1 Johan den Dunnen
00460598 Pat6 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no motor delay; speech delay; no hypotonia; mild-moderate intellectual disability; no hand anomalies; no undescended testis, no micropenis; joint laxity; MRI brain enlarged ventricles, enlarged peri-cerebral spaces; no eye anomalies 1 1 Johan den Dunnen
00460599 Pat7 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay, 13m-sit, 22m-walk; speech delay, still has speech difficulties; mild hypotonia; mild intellectual disability; no hearing loss; no palatal anomalies; no hand anomalies; ECG mild to moderate mitral insuffiency; no eye anomalies 1 1 Johan den Dunnen
00460600 Pat8 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay, 5y-walk; speech delay; intellectual disability; postaxial polydactyly (hands); MRI brain arnold-chiari malformation, hydrocephalus, syringomyelia; ECG pulmonary valvar abnormality, ventricular septal defect, and interatrial communication.; astigmatism; recurrent urinary tract infections, anterior placed anus 1 1 Johan den Dunnen
00460601 Pat9 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay, 23m-walked, recurrent falls; speech delay, 3.5y-1-2 words, 6 signs; no hypotonia; no hand anomalies; no undescended testis, no micropenis; growth hormone deficiency; MRI brain mild dilation ventricles, prominence frontal subarachnoid spaces; ECG moderate rvot obstruction with mild rvh, dysplastic pulmonary valve; strabismus 1 1 Johan den Dunnen
00460602 Pat10 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay, 12m-crawl, 18m-first step, 20m-walk; speech delay, currently speaking in 2-3 word phrases/few sentences; hypotonia; no hearing loss; no hand anomalies; MRI brain mild ventriculomegaly; ECG normal; no eye anomalies; GERD toddler diahrrea 1 1 Johan den Dunnen
00460603 Pat12 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay; speech delay; mild hypotonia; no hand anomalies; MRI brain moyamoya; ECG peripheral pulmonary stenosis; stroke 1 1 Johan den Dunnen
00460604 Pat14 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay; speech delay; hypotonia; mild intellectual disability; sensorineural hearing loss; submucous cleft; no hand anomalies; no undescended testis, micropenis; hypogonadotrophic hypogonadism; no growth hormone deficiency; osteopenia, joint laxity; MRI brain enlarged lateral and third ventricles; ECG atrial septal defects, ventricular sepral defect, patent ductus arteiosus and bicuspid aortic valve.; glaucoma 1 1 Johan den Dunnen
00460605 Pat15 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no hand anomalies; undescended testis, micropenis; hypogonadotrophic hypogonadism; ECG tetralogy of Fallot, pulmonary valve atresia; Wormian bones, omphalocele, poor corticomedullary differentiation kidneys anterior placed anus; 9d-deceased 1 1 Johan den Dunnen
00460606 Pat16 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay, 10m-sit, 16m-walk; speech delay, 18m-first words, 3y-2 words together; no hypotonia; mild intellectual disability; no hearing loss; no palatal anomalies; tapered fingers, small hands/feet; genu valgum; ECG asd, pulmonic stenosis; strabismus; generalized anxiety disorder, adhd. 1 1 Johan den Dunnen
00460607 Pat17 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., no motor delay, gait imbalance; no speech delay; no hypotonia; mild intellectual disability (normal range); cutaneous finger syndactyly; undescended testis, no micropenis; limited elbow extension, broad and short clavicles, flat acetabular roof, short femoral neck, glenoid hypoplasia, lunate-triquetral fusion; MRI brain chiari malformation; ECG interatrial communication, perimembranous ventricular septal defect, and pda; hypermetropia; gait imbalance , died aged 21 from complicationsre related to cervical vertebrae instability 1 1 Johan den Dunnen
00460608 Pat20 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay, 2y-walk; speech delay; hypotonia; dyslexia, visual processing disorder; conductive hearing loss; hypernasal voice; no hand anomalies; undescended testis, micropenis; hypogonadotrophic hypogonadism; growth hormone deficiency; genu varum; MRI brain enlarged ventricles and increased white matter volume, thin corpus callosum; ECG normal; falx calcification, sparse hair, gastro-esophageal reflux 1 1 Johan den Dunnen
00460609 Pat21 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay, does not bare weight on legs; speech delay, 3 words; hypotonia; postaxial polydactyly (bilateral hands and left foot); no undescended testis, no micropenis; MRI brain thinning of the corpus calosum; ECG patent ductus arteriosus and atrial septal defect requiring surgery; pseudostrabismus, bilateral astigmatism; CK in 300s persistently 1 1 Johan den Dunnen
00460610 Pat22 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay5y-walk; speech delay, less than 10 words; hypotonia; submucous cleft; no hand anomalies; klippel-feil anomaly, bilateral coxa valga, fusion cuboid and 3rd cuneiforms, brachymesophalangy; MRI brain chiari 1 like and mild ventriculomegaly; ECG two ventricular septal defects, a patent ductus areteriosus and an atrial septal defect (asd).; posterior nuchal redundancy after birth, bilateral renal pelviectasis , hydroureter, reflux (grade 4) 1 1 Johan den Dunnen
00460611 Pat23 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay, 3y6m-walk; speech delay; hypotonia; mild-moderate intellectual disability; sensorineural hearing loss; high palate; no hand anomalies; no hypogonadotrophic hypogonadism; no growth hormone deficiency; bilateral tarsal coalitions, fused vertebrae C2-C6 joint laxity, mild scoliosis; MRI brain dilated lateral ventricles and a chiari 1 malformation; ECG normal; normal FSH LH, polysystic ovaries; 16y-first menstruation short/irregular 1 1 Johan den Dunnen
00460612 Pat24 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay, 19m-walks; speech delay; hypotonia; mild intellectual disability; no hearing loss; no palatal anomalies; 5th finger clinodactyly, brachydactyly of toes 2-5; no undescended testis, micropenis; hypogonadotrophic hypogonadism; growth hormone deficiency; advanced bone age, mild genu valgum, pes planus; MRI brain mild ventricular dilation; ECG normal; astigmatism; ankyloglossia at birth, supernumerary left nipple, tight heel cords, sagittal synostosis, hydronephrosis, hydroureter 1 1 Johan den Dunnen
00460613 Pat25 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay, 2.5y-walk; no speech delay; hypotonia; Normal neurocognitive evaluation; sensorineural hearing loss; high palate; clinodactyly 5th finger. small hands and feet.; no undescended testis, no micropenis; genu valgum. talocrural valgus. coxa valga; ECG multiple vsds, valvular pulmonal stenosis.; strabismus, anisocoria, slightly tortous vessels retina; birth-32w, due to preeclampsia and iugr 1 1 Johan den Dunnen
00460614 Pat26 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay; speech delay; mild-moderate intellectual disability (IQ 52); sensorineural hearing loss; small high palate; no hand anomalies; undescended testis, micropenis; clinically suspected hypogonadotrophic hypogonadism; congenital hip dislocation; MRI brain hydrocephalus without aquaduct stenosis, vp shunt, thin corpus callosum; ECG atrial septal defect type 2, ebstein anomaly 1 1 Johan den Dunnen
00460615 Pat27 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay, 2y-walk; speech delay, 3y-few words; hypotonia; conductive hearing loss; high palate; brachydactyly; 11 ribs, wormian bones; MRI brain hydrocephalus with ventriculomegaly of lateral and third ventricles requiring shunt; ECG tetralogy of Fallot, pulmonary atresia and ventricular septal defect; subglottic stenosis 1 1 Johan den Dunnen
00460616 Pat28 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay, 16m-sit, 24m-cruised, 3y-not walking; speech delay, 3y-15 words, 25m-understands simple commands, 11m-expressive language, 18m-receptive language; hypotonia; no hearing loss; no palatal anomalies; brachydactyly (<3rd percentile mf) and tapered fingers; no undescended testis, no micropenis; no hypogonadotrophic hypogonadism; no growth hormone deficiency; occiput-c1 junction is dysmorphic; MRI brain mildly enlarged supratentorial ventricular system; small, dysmorphic posterior fossa and narrowing of the craniocervical junction; flattening of anterior belly of pons and superior telescoping of the brainstem; non-specific abnormal t2 signal in the bl frontoparietal and periatrial white matter; ECG truncus arteriosus and pulmonary artery stenosis; alternating divergent strabismus; cftr - p.phe508del, mat and p.phe1052val, pat; absent thymus, laryngeal cleft, feeding difficulties, gastric tube dependence, poor weight gain 1 1 Johan den Dunnen
00460617 Pat29 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay, 15m-sit, 4y-walk with walker, 5y-walk independently; speech delay 3-4y single words, 5y-phrases; mild-moderate intellectual disability (8y3m-IQ51); sensorineural hearing loss; no palatal anomalies; bilateral post-axial polydactyly, clinodactyly of toes 4 and 5 bilaterally; undescended testis, micropenis; clinically suspected hypogonadotrophic hypogonadism; joint hypermobility, tight heel cords S/P release, mild hallux valgus, pectus excavatum, advanced bone age; MRI brain hydrocephalus s/p vp shunt, hypoplastic corpus callosum; ECG asd, vsd, small pda with pulmonary hypertension; bilateral iris colobomas, no retinal or optic nerve colobomas, 2m-possible foveal hypoplasia; current otitis media S/P tympanostomy tubes x3, anterior anus, malrotation, G-tube dependence, chronic lung disease secondary to chronc aspiration 1 1 Johan den Dunnen
00460618 Pat30 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay; speech delay; no hypotonia; intellectual disability; no hearing loss; no palatal anomalies; tapered fingers and toes; undescended testis, no micropenis; genu varum, flat feet, opening posterior arches sacral vertebrae, external tibial bone; MRI brain normal; ECG normal; overweight 1 1 Johan den Dunnen
00460619 Pat31 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD see paper; ..., motor delay; speech delay; intellectual disability; hearing loss; no palatal anomalies; no hand anomalies; no undescended testis, no micropenis; no hypogonadotrophic hypogonadism; no growth hormone deficiency; no skeletal anomalies; ECG atrial septal defect 1 1 Johan den Dunnen
00460620 Pat32 PubMed: Weiss 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD see paper; ..., motor delay; speech delay; no hypotonia; no hearing loss; no hand anomalies; MRI brain periventricular heterotopia with subependymal gray matter heterotopia, mega cisterna magna, thin corpus callosum, and relative macrocephaly; ECG normal; unilateral ptosis; wide intermamillary distance, sacral pit 1 1 Johan den Dunnen
00472015 SCZ1001;KDM2B_34 PubMed: Girard 2011, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents - - Canada - - - - - NDD - 1 1 Johan den Dunnen
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