All individuals with variants in gene SIN3A

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00111399 S_035 PubMed: Popp 2017, Journal: Popp 2017 - F - - - - - - - ID Mild ID, behavioral anomalies (ADHD), obesity, height at 97th centile; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342) 1 1 Bernt Popp
00313953 Pat1 PubMed: Witteveeen 2016, Journal: Witteveeen 2016 - F - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile P0.6–P2; height percentile P2; MRI brain cortical dysgenesis, corpus callosum dysgenesis, white matter abnormalities; autism spectrum disorder; no epilepsy; hearing loss; typical facial dysmorphic features; no ectodermal symptoms 1 1 Johan den Dunnen
00313954 Pat2 PubMed: Witteveeen 2016, Journal: Witteveeen 2016 - F - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile P3; height percentile P25; MRI brain cortical dysgenesis, corpus callosum dysgenesis, white matter abnormalities; no autism spectrum disorder; epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; thin hair 1 1 Johan den Dunnen
00313955 Pat3 PubMed: Witteveeen 2016, Journal: Witteveeen 2016 patient of naturally conceived, non-identical female twins F - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile P10; height percentile P5; no autism spectrum disorder; no epilepsy; hypermobile joints; no hearing loss; typical facial dysmorphic features; thin hair 1 1 Johan den Dunnen
00313956 Pat4 PubMed: Witteveeen 2016, Journal: Witteveeen 2016 - M - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile P25; height percentile P16; no autism spectrum disorder; no epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms 1 1 Johan den Dunnen
00313957 Pat3;Pat5:Pat4 PubMed: van Dongen 2020, PubMed: Witteveeen 2016, Journal: Witteveeen 2016, PubMed: Coenen-van der Spek 2023 - M - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile P16; height percentile <P0.6; MRI brain cortical dysgenesis, white matter abnormalities, ventricle dilatation; autism spectrum disorder; epilepsy; hypermobile joints; hearing loss; typical facial dysmorphic features; thin hair, brittle nails, teeth anomalies 1 1 Johan den Dunnen
00313958 Pat1;Pat6;Pat5 PubMed: van Dongen 2020, PubMed: Witteveeen 2016, Journal: Witteveeen 2016, PubMed: Coenen-van der Spek 2023 - F - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile P75; height percentile P50; MRI brain ventricle dilatation; autism spectrum disorder; epilepsy; hypermobile joints; hearing loss; typical facial dysmorphic features; no ectodermal symptoms 1 1 Johan den Dunnen
00313959 FamPat7 PubMed: Witteveeen 2016, Journal: Witteveeen 2016 2-generation family, 3 affected (F, 2M), index M - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile <P3; height percentile <P3; no autism spectrum disorder; no epilepsy; delayed bone age; no hearing loss; typical facial dysmorphic features 1 3 Johan den Dunnen
00313960 FamPat8 PubMed: Witteveeen 2016, Journal: Witteveeen 2016 sister F - Ukraine;Germany - - - - - ID see paper; ..., intellectual disability (TIQ <70); hearing loss; typical facial dysmorphic features 1 1 Johan den Dunnen
00313961 FamPat9 PubMed: Witteveeen 2016, Journal: Witteveeen 2016 father M - Ukraine;Germany - - - - - ID see paper; ..., borderline intellectual disability; OFC percentile P50; height percentile P50; no epilepsy; no hearing loss; typical facial dysmorphic features 1 1 Johan den Dunnen
00313962 Pat2;Pat10;Pat14 PubMed: van Dongen 2020, PubMed: Witteveeen 2016, Journal: Witteveeen 2016, PubMed: Coenen-van der Spek 2023 - M - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile P50; height percentile P50–75; MRI brain corpus callosum dysgenesis, ventricle dilatation; autism spectrum disorder; no epilepsy; hypermobile joints; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms 1 1 Johan den Dunnen
00313963 FamPat11;Pat17 PubMed: Witteveeen 2016, Journal: Witteveeen 2016, PubMed: Coenen-van der Spek 2023 2-generation family, 3 affected (F, 2M), index M - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile P3 (index); height percentile <P0.6; no epilepsy; clinidactyly; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms 1 3 Johan den Dunnen
00313964 FamPat12;Pat16 PubMed: Witteveeen 2016, Journal: Witteveeen 2016, PubMed: Coenen-van der Spek 2023 brother M - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile <P0.6; height percentile P2; MRI brain cortical dysgenesis; autism spectrum disorder; no epilepsy; clinidactyly; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms 1 1 Johan den Dunnen
00313965 FamPat13;Pat18 PubMed: Witteveeen 2016, Journal: Witteveeen 2016, PubMed: Coenen-van der Spek 2023 mother F - - - - - - - ID see paper; ..., borderline intellectual disability; height percentile <P0.6; no epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms 1 1 Johan den Dunnen
00313966 Pat13/Pat14 PubMed: Mefford 2012, PubMed: Witteveeen 2016, Journal: Witteveeen 2016 - - - - - - - - - ID see paper; ..., intellectual disability (TIQ <70); OFC percentile P3; height percentile P50-P75; no autism spectrum disorder; hypermobile joints; typical facial dysmorphic features 1 1 Johan den Dunnen
00313967 Pat14/Pat15 PubMed: Mefford 2012, PubMed: Witteveeen 2016, Journal: Witteveeen 2016 - F - - - - - - - ID see paper; ..., no intellectual disability (TIQ <70); OFC percentile P10–P15; height percentile P3; MRI brain corpus callosum dysgenesis, ventricle dilatation; autism spectrum disorder; delayed bone age; typical facial dysmorphic features 1 1 Johan den Dunnen
00320134 - - - F - - - - - - - ? Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Short stature (HP:0004322) 1 1 IMGAG
00437935 - - - F no Ireland white >38y - - somatropin, estradiol, norethisterone, levothyroxine WITKOS Motor delay (HP:0001270), Delayed speech and language development (HP:0000750), Decreased head circumference (HP:0040195), Hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Intellectual disability, mild (HP:0001256), Short stature (HP:0004322), Abnormal facial shape (HP:0001999), Myopathy (HP:0003198), Hypogonadotropic hypogonadism (HP:0000044), Primary amenorrhea (HP:0000786), Hypothyroidism (HP:0000821), Gowers sign (HP:0003391), EMG abnormality (HP:0003457), High forehead (HP:0000348), Pointed chin (HP:0000307), (Small hand HP:0200055), Downslanted palpebral fissures (HP:0000494) 1 1 Robert H Field
00437941 patient PubMed: Narumi-Kishimoto 2019 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - WITKOS see paper; ... 1 1 Johan den Dunnen
00437942 patient PubMed: Ferrer 2019 3-generation family, 1 triple affected F - United States - - - - - ATOD, ECTD, WITKOS see paper; ..., motor delay, speech delay, scoliosis, distinctive craniofacial features (prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, oligodontia), dry skin; family history dry skin mother, missing teeth paternal grandmother 1 1 Johan den Dunnen
00437945 patient PubMed: Ercoskun 2021 - F - Turkey - - - - - WITKOS see paper; ..., intellectual disability, short stature, dysmorphic facial features, long face, prominent forehead, smooth-long philtrum, broad eyebrows, retrognathia, malformed ears, MRI brain anomalies, no epilepsy, autism spectrum disorder, no digital anomaly, no microcephaly, no joint laxity 1 1 Johan den Dunnen
00437946 PatA/B PubMed: Jacobsen 2022 2-generation family, 2 affected sisters adopted by different families F - United States - - - - - WITKOS see paper; ..., juvenile glaucoma secondary to increased corneal diameters, facial features characteristic of Witteveen-Kolk syndrome (broad, tall forehead, small mouth, thin upper lip, pointed chin), born with cleft palate, mild speech delay, developmental delay 1 2 Johan den Dunnen
00437947 patient PubMed: Penon-Portmann 2022 2-generation family, 1 affected, unaffected non-carrier parents M - United States Hispanic - - - - WITKOS see paper; ... 1 1 Johan den Dunnen
00437948 Pat1-DECIPHER278680 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 40w, weight 2.75 (-1.5); no hypotonia; feeding difficulties; NG feeding; moderate intellectual disability; global developmental delay; language delay; 12m-sit unassisted; 24m-first steps; neurological hypotonia; scoliosis, strabismus, ataxic gait; MRI brain cerebellar atrophy; donwslanted pf; broad nasal tip, short nose; narrow mouth; infra-orbital crease; frontal bossing; vomiting, compensatory scoliosis, strabismus 1 1 Johan den Dunnen
00437949 Pat2-DECIPHER306260 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 37w, weight 2.097 (-2); hypotonia; feeding difficulties; NG feeding; moderate/severe intellectual disability; global developmental delay; language delay, 4ylanguage delay, 3y-first words; 5y-first steps; possible autism spectrum disorder; neurological hypotonia; ?epilepsy, EEG normal; MRI brain ventriculomegaly, ?colpocephaly, foci high signal white matter, dilation lateral ventricles; epicanthus inversus, hypotelorism; narrow mouth; unilateral tag on lobe; high anterior hairline; frontal bossing; generalized hypopigmentation, micrognathia; apnoea, cow's milk protein intolerance, nystagmus secondary to oculocutaneous albinism, 1 1 Johan den Dunnen
00437950 Pat3-DECIPHER271952 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 42w, weight 3.686 (0.6); hypotonia; feeding difficulties; mild intellectual disability; global developmental delay; language delay, 12mlanguage delay, 3y-first words; 21m-first steps; ADHD; neurological hypotonia; ; abnormal facial shape; joint hypermobility 1 1 Johan den Dunnen
00437951 Pat4-DECIPHER262798 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 39w, weight 3.23 (-0.5); hypotonia; feeding difficulties; UTI at 2 weeks, unilateral renal scar; no intellectual disability; global developmental delay; language delay, 2y6mlanguage delay, 3y-first words; 12m-sit unassisted; 18m-first steps; high functioning autism; aggressive behavior, developmental coordination disorder; no neurological hypotonia; ; small nose; small; triangular face, pointed when seen prominent but not pointed chin; broad forehead, mandibular prognathia; constipation, sacral dimple, bilateral little finger clinodactyly, hallux valgus, 2nd toe overrides first and third bilaterally. hirsute on back as baby. pes planus, hypermobile in ankles 1 1 Johan den Dunnen
00437952 Pat5-DECIPHER293976 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 39w, weight 2.55 (-1.9); hypotonia; feeding difficulties; moderate intellectual disability; global developmental delay; language delay, 3y-first words; motor delay; 18m -sit unassisted; 22m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; MRI brain no structural abnormality, numerous foci of high T2 signal peritrigonal and frontal lobe bilaterally (nonspecific) ; hypertelorism; prominent nasal bridge; relatively prominent lobes; triangular face. prominent chin. tight curly hair, plagiocephaly.; broad forehead,; mild pectus excavatum. left inguinal hernia (had herniotomy). sacral dimple (normal mri spine). bilateral 5th finger clinodactyly and brachydactyly. toes 3rd / 4th / 5th clinodactyly bilaterally, 2nd toe overrides 3rd bilaterally. tight curly hair, plagiocephaly. echolalia 1 1 Johan den Dunnen
00437953 Pat6-DECIPHER263709 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 42w, weight 3.345 (-0.43); ; global developmental delay; language delay, 3y-first words; 12m-sit unassisted; 2y6m-03y-first steps; no neurological hypotonia; ; thin upper lip vermilion; long philtrum; broad finger, carious teeth, eczema, failure to thrive, mild conductive hearing impairment, obstructive sleep apnoea, short foot, submucous cleft hard palate, bifid uvula 1 1 Johan den Dunnen
00437954 Pat7-DECIPHER307508 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 39w, weight 2.525 (-1.8); no feeding difficulties; global developmental delay; language delay, no first words yet; 6m-sit unassisted; not yet achieved-first steps; neurological hypotonia; ; epicanthus; failure to thrive, plagiocephaly, snhl 1 1 Johan den Dunnen
00437955 Pat8-DECIPHER266515 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 40w, weight 2.721 (-1.76); feeding difficulties; global developmental delay; language delay; 8m-sit unassisted; 18m-first steps; no neurological hypotonia; ; thin vermilion border; abnormal facial shape; hypermelanotic macule, short foot, short palm, sparse hair 1 1 Johan den Dunnen
00437956 Pat9-DECIPHER260388 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 41w, weight 2.92 (-1.33); feeding difficulties; moderate intellectual disability; global developmental delay; 12m--first words; 9m -sit unassisted; 16m-first steps; hyperactive behaviour; no neurological hypotonia; no epilepsy; MRI brain normal; deeply set eye, epicanthus inversus; uplifted earlobe; flat forehead; sparse scalp hair when young, ongoing difficulties with sucking, chewing and coordination of eating, poor sleep 1 1 Johan den Dunnen
00437957 Pat10-DECIPHER264582 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 41w, weight 2.891 (-1.39); no feeding difficulties; global developmental delay; 2y6m-sit unassisted; not yet achieved-first steps; no neurological hypotonia; ; downslanted pf, epicanthus; depressed nasal ridge; narrow mouth; abnormality of the palmar creases, aplasia cutis congenita over the scalp vertex, capillary hemangiomas, reduced subcutaneous adipose tissue 1 1 Johan den Dunnen
00437958 Pat11-DECIPHER292229 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 38w, weight 2.126 (-2.19); no hypotonia; no feeding difficulties; moderate intellectual disability; global developmental delay; language delay, 19m--first words; expressive; 10m-sit unassisted; 20m-first steps; no psychiatric diagnosis; behaviour immature; no neurological hypotonia; febrile seziures; ; 1 1 Johan den Dunnen
00437959 Pat12-DECIPHER282105 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 37w, weight 2.98 (0.47); feeding difficulties; ; 8m-sit unassisted; 12m-first steps; ADHD; aggressive behavior, sensory disorder, recurring obsessions; no neurological hypotonia; ; broad forehead; short chin; clinodactyly of the 5th finger, overlapping toe 1 1 Johan den Dunnen
00437960 Pat13-DECIPHER282212 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - WITKOS see paper; ..., birth 41w, weight 3.118 (-0.91); no hypotonia; no feeding difficulties; mild intellectual disability; no global developmental delay; 12m-first words; 10m-first steps; ADHD; no neurological hypotonia; no epilepsy; epicanthus; depressed nasal bridge; brachytelomesophalangy, short digit, flat occiput 1 1 Johan den Dunnen
00437961 Pat14-DECIPHER421224 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 - M - - - - - - - WITKOS see paper; ..., birth 41w, weight 4.03 (1.025); no hypotonia; no feeding difficulties; moderate intellectual disability; global developmental delay; receptive > expressive ; 2y-first steps; no psychiatric diagnosis; no neurological hypotonia; epilepsy, EEG abnormal; MRI brain thinning posterior body corpus callosum; 1 1 Johan den Dunnen
00437962 Pat15-DECIPHER421225;Pat19 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021, PubMed: Witteveeen 2016, Journal: Witteveeen 2016, PubMed: Coenen-van der Spek 2023 relative of patient published (Witteveen) F - - - - - - - WITKOS see paper; ..., ; intellectual disability below average; no global developmental delay; not receptive > expressive; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; ; 2dvt, cystocele and urethrocele, evar prosthesis, hernia cicatriccalis, sigmoïd adenocarcinoma 1 1 Johan den Dunnen
00437963 Pat16-DECIPHER421226 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - WITKOS see paper; ..., birth 41w; no hypotonia; no feeding difficulties; Scoliosis noted at birth; mild intellectual disability; global developmental delay; receptive > expressive ; 18m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; large ears; 8y-Burkitt lymphoma,, fifth fingers clinodactyly 1 1 Johan den Dunnen
00437964 Pat5;Pat17-DECIPHER421228;Pat6 PubMed: van Dongen 2020, PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021, PubMed: Coenen-van der Spek 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - WITKOS see paper; ..., birth 32w+6, weight 1.58 (-0.88); no hypotonia; feeding difficulties; Hyperbilirubinemia, IRDS, apnoea; mild intellectual disability (IQ71); global developmental delay; 1y-language delay; receptive > expressive ; 9m-sit unassisted; 2y-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; sleeping problems; orofacial cleft, conductive hearing loss 1 1 Johan den Dunnen
00437965 Pat18-DECIPHER421229;Pat20 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021, PubMed: Coenen-van der Spek 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - WITKOS see paper; ..., birth 42w; no hypotonia; no feeding difficulties; moderate intellectual disability (IQ60); no global developmental delay; no language delay; receptive > expressive ; 18m-first steps; no psychiatric diagnosis; epilepsy; ; 1 1 Johan den Dunnen
00437966 Pat19-DECIPHER421230;Pat8 PubMed: van Dongen 2020, PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021, PubMed: Coenen-van der Spek 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - WITKOS see paper; ..., ; no hypotonia; feeding difficulties; mild intellectual disability; ; autism spectrum disorder, pyschosis; no neurological hypotonia; no epilepsy; sleeping problems; thickened aortic valve 1 1 Johan den Dunnen
00437967 Pat20-DECIPHER421231;Pat15 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021, PubMed: Coenen-van der Spek 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - WITKOS see paper; ..., birth 42w, weight normal; hypotonia; feeding difficulties; no intellectual disability (IQ93); receptive > expressive ; psychiatric diagnosis (McDD subtype), anxiety disorder; neurological hypotonia; no epilepsy; ; 1 1 Johan den Dunnen
00437968 Pat21-DECIPHER421232 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - WITKOS see paper; ..., birth at term, weight normal; hypotonia; no feeding difficulties; no intellectual disability (IQ100); ; schizoaffective disorder; no neurological hypotonia; no epilepsy; ; pelvic kidney, palate defect, 4y-left cdh diagnosis 1 1 Johan den Dunnen
00437969 Pat22-DECIPHER421233 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - WITKOS see paper; ..., ; no intellectual disability; mild receptive > expressive; ; neurological hypotonia; epilepsy; MRI brain normal; mild downslanted pf; high and broad forehead; prominent chin; 1 1 Johan den Dunnen
00437970 Pat23-DECIPHER421234 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - WITKOS see paper; ..., birth 36w+6, weight 1.899 (-1.5); hypotonia; feeding difficulties; no language delay; receptive > expressive ; 9m-sit unassisted; 11m-not yet unassisted first steps; neurological hypotonia; EEG normal 1 1 Johan den Dunnen
00437971 Pat24-DECIPHER421236 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - WITKOS see paper; ..., birth 41w+5, weight 3.3 (-0.56); hypotonia; feeding difficulties; global developmental delay; receptive > expressive ; not yet sit unassisted; not yet achieved-first steps; neurological hypotonia; epilepsy, EEG normal; paroxysmal tonic upgaze; MRI brain normal; elevated liver enzymes 1 1 Johan den Dunnen
00437972 Pat25-DECIPHER421237 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - WITKOS see paper; ..., birth 40w, weight 2.8 (-1.69); no hypotonia; feeding difficulties; Gastro-oesophageal reflux; no intellectual disability (IQ86); no global developmental delay; 1y-language delay; receptive > expressive ; 22m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; MRI brain enlarged cerebral spaces; 1 1 Johan den Dunnen
00437973 Pat26-DECIPHER421238 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - WITKOS see paper; ..., birth 40w, weight 2.3 (-2.87); hypotonia; feeding difficulties; severe intellectual disability; non-verbal; receptive > expressive ; 2.5y-first steps; autism spectrum disorder; neurological hypotonia; no epilepsy; MRI brain dysplastic, ventriculomegaly; multiple vsds; bilateral iris and chorioretinal coloboma; deafness (mixed hearing loss); immunodeficiency (bronchiectasis, t cell lymphopenia, low iga, igg 1 1 Johan den Dunnen
00437974 Pat27-DECIPHER421239 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - WITKOS see paper; ..., birth 40w, weight 2.76 (-2.5); hypotonia; no feeding difficulties; mild intellectual disability (IQ78); no global developmental delay; no language delay, 12m-first words; receptive > expressive ; 17m-first steps; ADHD; neurological hypotonia; no epilepsy; MRI brain ventriculomegaly, Chiari 1 malformation, headaches; flat midface; high and broad forehead; plagiocephaly, recurrent otitis media (transtympanic drains needed), amigdalectomy, asthma, scoliosis, chiari i malformation that needed surgery 1 1 Johan den Dunnen
00437975 Pat28-DECIPHER421240 PubMed: Balasubramanian 2021, Journal: Balasubramanian 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - WITKOS see paper; ..., birth 41w+3 , weight 2.95 (-1.126); no hypotonia; No; Joint laxity, Unilateral hypermetropia ; mild intellectual disability; mild global developmental delay; language delay, 11m-first words; receptive > expressive ; mild motor delay; 5msit unassisted; 14m-first steps; no psychiatric diagnosis; neurological hypotonia; no epilepsy; MRI brain 3y-normal; hypotelorism; small nasal bridge; small mouth, thin lips, small incisors and relatively large canines; normal; flat midface; relatively short fingers; clinodactyly, widened sandal gap, right great toe angled towards lateral edge of foot, glue ear, multiple dental caries 1 1 Johan den Dunnen
00437976 Pat1 PubMed: Schnoll 2023 2-generation family, 1 affected, unaffected parents M no Brazil - - - - - ? see paper; ..., no spontaneous pubertal development, unilateral cryptorchidism (surgically corrected), anosmia (posteriorly formal olfactory test), bilateral neurosensorial partial hearing impairmen (audiometry and auditory evoked potentials), mild cognitive delay 1 1 Johan den Dunnen
00437977 Pat2 PubMed: Schnoll 2023 2-generation family, 1 affected, unaffected parents M - Brazil - - - - - ? see paper; ..., short stature, central obesity, mild-moderate cognitive impairment, no motor developmental delay 1 1 Johan den Dunnen
00437983 Pat1 PubMed: Coenen-van der Spek 2023 - F - - - - - - - WITKOS developmental delay; intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; MRI brain normal; no epilepsy; skeletal abnormalities; hearing loss; typical facial dysmorphic features; ectodermal symptoms; bifid uvula, submucous cleft palate and velopharyngeal insufficiency, sleep apnea, alternating exotropia 1 1 Johan den Dunnen
00437984 Pat2 PubMed: Coenen-van der Spek 2023 - M - - - - - - - WITKOS developmental delay; speech delay; no behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; no epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms 1 1 Johan den Dunnen
00437985 Pat3 PubMed: Coenen-van der Spek 2023 - F - - - - - - - WITKOS developmental delay; intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; MRI brain abnormal; no epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; ectodermal symptoms; premature birth, dysautonomia 1 1 Johan den Dunnen
00437986 Pat7 PubMed: Coenen-van der Spek 2023 - M - - - - - - - WITKOS developmental delay; no intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference not below −2SD, height not below −2SD; MRI brain abnormal; no epilepsy; skeletal abnormalities; no hearing loss; no ectodermal symptoms; high palate, atrial septal defect, hyperextensible joints, hypopigmented skin lesions, frequent falling 1 1 Johan den Dunnen
00437987 Pat9 PubMed: Coenen-van der Spek 2023 - F - Netherlands - - - - - WITKOS developmental delay; intellectual disability; speech delay; no behavioral problems; hypotonia; no feeding difficulties; head circumference not below −2SD, height not below −2SD; no epilepsy; skeletal abnormalities; no typical facial dysmorphic features; premature birth, hypogonadrotropic hypogonadism, diabetes mellitus 1 1 Johan den Dunnen
00437988 Pat10 PubMed: Coenen-van der Spek 2023 - F - - - - - - - WITKOS developmental delay; speech delay; no behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; no epilepsy; no skeletal abnormalities; hearing loss; typical facial dysmorphic features; no ectodermal symptoms; atrial septal defect, sacral dimple; maternally inherited 22q12.2 duplication 1 1 Johan den Dunnen
00437989 Pat11 PubMed: Coenen-van der Spek 2023 - F - - - - - - - WITKOS developmental delay; speech delay; no behavioral problems; no hypotonia; feeding difficulties; head circumference below −2SD, height below −2SD; MRI brain abnormal; epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; ectodermal symptoms; premature birth, Pierre Robin sequence, cleft soft palate 1 1 Johan den Dunnen
00437990 Pat12 PubMed: Coenen-van der Spek 2023 - F - - - - - - - WITKOS no developmental delay; no intellectual disability; no speech delay; no behavioral problems; no hypotonia; no feeding difficulties; head circumference not below −2SD, height not below −2SD; MRI brain aormal; no epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms 1 1 Johan den Dunnen
00437991 Pat13 PubMed: Coenen-van der Spek 2023 - F - - - - - - - WITKOS no developmental delay; no intellectual disability; no speech delay; behavioral problems; no hypotonia; no feeding difficulties; head circumference not below −2SD, height below −2SD; MRI brain abnormal; epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms; possible narcolepsy, memory concerns, fatigue, muscle weakness, paresthesias, gait instability 1 1 Johan den Dunnen
00466079 332225 - - M no Germany - - - - - WITKOS Abnormality of the face, Epicanthus, Motor delay, Hypotonia, Dysphagia, Pectus excavatum, Genu valgum, Joint hypermobility, Decreased body weight, Ventriculomegaly 1 1 Andreas Laner
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