All individuals with variants in gene KDM3B

22 entries on 1 page. Showing entries 1 - 22.
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00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00311925 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00433675 - - - - - - - - - - - autism intellectual disability, autism, hypotonia, gait abnormality 1 1 Marketa Wayhelova
00434804 Pat1 PubMed: Gofin 2022 2-generation family, affected father/daughter F;M - United States - - - - - ? - 1 2 Johan den Dunnen
00436138 Pat7 PubMed: Schonauer 2023, Journal: Schonauer 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD onset infancy; neurodevelopmental delay; obesity; no hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; no neonatal hypotonia; feeding difficulties infancy; moderate speech delay; severe motor delay; severe learning disabilities; no school (special education); moderate intellectual disability; epilepsy 1 1 Johan den Dunnen
00472019 Pat1 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., uncomplicated pregnancy; birth weight 3700g; mild intellectual disability; motor delay; 2y6m-walk; language delay, 2y-first words; height -1.7SD, OFC -0.75SD; normal behavior; no epilepsy; hypotonia (childhood); MRI brain normal; neonatal feeding difficulties, swallowing problems; no eye abnormalities; no hearing loss; joint hypermobility; no scoliosis; pes planus, long fingers, clinodactyly 5th toe; migraine; chronic bladder infections; inverted nipples; long ears; upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; retrognathia, squared ears with notch 1 1 Johan den Dunnen
00472020 Pat2 PubMed: Diets 2019 2-generation family, affected daughter/mother F - - - - - - - ID see paper; ..., pregnancy breech presentation; developmental delay, learning problems; motor delay; language delay; height -2.5SD, OFC -0.2SD; normal behavior; no epilepsy; MRI brain normal; congenital hip dysplasia; no neonatal feeding difficulties; no eye abnormalities; no hearing loss; joint hypermobility; no scoliosis; short broad distal phalanges thumb, short 5th fingers; 14y-acute myeloid leukemia; congenital hypothyroidism; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; prominent eyes, small alae nasi 1 2 Johan den Dunnen
00472021 Pat3 PubMed: Diets 2019 mother F - - - - - - - ID see paper; ..., mild intellectual disability; language delay; no epilepsy; bilateral hearing loss; narrow pelvic floor; one miscarriage; narrow pelvic floor; one miscarriage 1 1 Johan den Dunnen
00472022 Pat4 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., pregnancy breech presentation; birth weight 3010g; mild intellectual disability; motor delay; 19m-walk; language delay, speech therapy; height 0SD, OFC +0.3SD; attention deficit hyperactivity disorder; no epilepsy; MRI brain normal; no neonatal feeding difficulties; hyperopia; no hearing loss; no joint hypermobility; no scoliosis; small 5th fingers, sandal gap; hypodontia; premature pubarche; sleeping difficulties; no long ears; no upslanted palpebral fissures; downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; broad nasal bridge, high palate 1 1 Johan den Dunnen
00472023 Pat5 PubMed: Diets 2019 2-generation family, affected son/mother M - - - - - - - ID see paper; ..., 28wg-premature contractions; birth weight 2340g; developmental delay, learning problems; no motor delay; language delay, dyslexia; height -0.9SD, OFC 0SD; attention deficit hyperactivity disorder, autism spectrum disorder; no epilepsy; no hypotonia (childhood); congenital diaphragmatic hernia, ventricular septal defect, umbilical and inguinal hernia; neonatal feeding difficulties, mainly in context of CHD; no eye abnormalities; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; no long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; ptosis; broad nasal tip; no low hanging columella; no thin upper lip vermillion; wide mouth; pointed chin; high nasal bridge, slight hypertelorism 1 2 Johan den Dunnen
00472024 Pat6 PubMed: Diets 2019 mother F - - - - - - - ID see paper; ..., pregnancy supine position, cerclage (mother had 5 miscarriages); mild intellectual disability, language dyslexia; no motor delay; language delay, speech therapy in childhood; height -0.5SD, OFC +2SD; attention deficit hyperactivity disorder; no epilepsy; no hypotonia (childhood); no eye abnormalities; hearing loss, 20y-hearing apparatus, Menière disease; no joint hypermobility; no scoliosis; no hand/feet abnormalities; no long ears; no upslanted palpebral fissures; mild downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; no wide mouth; pointed chin; high nasal bridge, slight hypertelorism, attached ear lobules 1 1 Johan den Dunnen
00472025 Pat7 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier mother F - - - - - - - ID see paper; ..., uncomplicated pregnancy; motor delay; height -1.7SD, OFC -2.5SD; no epilepsy; hypotonia (childhood); MRI brain normal; pulmonary capillary hemangiomatosis; no neonatal feeding difficulties; no eye abnormalities; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; 6m-pulmonary hypertension due to pulmonary capillary hemangiomatosis and severe microangiopathy; no long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; no broad nasal tip; no low hanging columella; no thin upper lip vermillion; no wide mouth; no pointed chin 1 1 Johan den Dunnen
00472026 Pat8 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., birth weight 3459g; mild intellectual disability; motor delay; 18m-20m-walk; language delay, speech therapy; height <-2.5SD, OFC ND; normal behavior; no epilepsy; no hypotonia (childhood); MRI brain normal; neonatal feeding difficulties, swallowing problems; no eye abnormalities; bilateral hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; long ears; no upslanted palpebral fissures; downslanted palpebral fissures; ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin 1 1 Johan den Dunnen
00472027 Pat9 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., uncomplicated pregnancy; birth weight 3450g; mild intellectual disability; motor delay; 14m-walk; language delay; height -2.5SD, OFC -1.6SD; hyperactivity; no epilepsy; hypotonia (childhood); MRI brain normal; neonatal feeding difficulties; strabism; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; mild CK/lactate elevation; tooth malformations; sleeping disorder; no long ears; upslanted palpebral fissures; no downslanted palpebral fissures; ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; depressed nasal bridge, telecanthus 1 1 Johan den Dunnen
00472028 Pat10 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., pregnancy complicated by growth retardation; birth weight low; mild-moderate intellectual disability; motor delay; language delay; height -1.24SD, OFC -1.6SD; normal behavior; no epilepsy; no hypotonia (childhood); neonatal feeding difficulties, slow drinking, tube feeding; low vision, nystagmus; no hearing loss; no joint hypermobility; no scoliosis; sandal gap, pes planus; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; posteriorly rotated ears 1 1 Johan den Dunnen
00472029 Pat11 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., pregnancy breech presentation; birth weight 3145g; mild-moderate intellectual disability; motor delay; language delay; height -2.5SD, OFC -0.5SD; attention deficit hyperactivity disorder, autism spectrum disorder; epilepsy (early childhood); hypotonia (childhood); MRI brain hypoplasia posterior corpus callosum; umbilical hernia, inguinal hernia, neonatal cryptorchidism; neonatal feeding difficulties, frequent vomiting; strabism, vertical limitation right eye; no hearing loss; joint hypermobility; no scoliosis; small feet, sandal gap; 14y-Hodgkin lymphoma; solitary anal ulcer; obesity; long ears; no upslanted palpebral fissures; downslanted palpebral fissures; ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; squared ears, broad palate 1 1 Johan den Dunnen
00472030 Pat12 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., uncomplicated pregnancy; birth weight 4030g; intellectual disability; motor delay; 15m-walk; language delay, 2y-first words; height -0.5SD, OFC +0.8SD; Incidental aggressive behavior; no epilepsy; no hypotonia (childhood); MRI brain small retrocerebellar cyst; no neonatal feeding difficulties; no eye abnormalities; no hearing loss; mild joint hypermobility; no scoliosis; long fingers/toes, clinodactyly 5th finger; sleeping difficulties; hypopigmentation hair; long ears; upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; no pointed chin; small nasal bridge, squared ears with notch 1 1 Johan den Dunnen
00472031 Pat13 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., pregnancy complicated by polyhydramnios, 33wg-premature birth; birth weight 1615g; developmental delay; motor delay; 17m-walk; language delay; height <-2.5SD, OFC ND; normal behavior; no epilepsy; no hypotonia (childhood); MRI brain white matter gliosis; heterotaxy, interrupted inferior vena cava, duodenal atresia, visceral situs ambigous; neonatal feeding difficulties; myopia, astigmatism; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; growth hormone deficiency; vit.D-deficiency; no long ears; no upslanted palpebral fissures; downslanted palpebral fissures; ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; frontal bossing 1 1 Johan den Dunnen
00472032 Pat14 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ..., pregnancy complicated by little liquid excess; birth weight 2650g; mild intellectual disability; motor delay; 16m-walk; language delay; height -2.5SD, OFC -0.5SD; autism spectrum disorder; no epilepsy; no hypotonia (childhood); MRI brain thick corpus callosum; hypospadia; neonatal feeding difficulties, slow drinking; no eye abnormalities; no hearing loss; no joint hypermobility; scoliosis; no hand/feet abnormalities; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; posteriorly rotated ears, small palpebral fissures 1 1 Johan den Dunnen
00472033 Pat15 PubMed: Diets 2019 2-generation family, affected son/father M - - - - - - - ID see paper; ..., IVF/ICSI pregnancy; birth weight 2488g; moderate intellectual disability; motor delay; 21m-walk; language delay; height <-2.5SD, OFC +0.5SD; normal behavior; epilepsy; hypotonia (childhood); MRI brain normal; neonatal feeding difficulties; no eye abnormalities; no hearing loss; no joint hypermobility; scoliosis; small hands/feet; obesity; hemiparesia left; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; no wide mouth; pointed chin 1 2 Johan den Dunnen
00472034 Pat16 PubMed: Diets 2019 father M - - - - - - - ID see paper; ..., birth weight 2940g; mild intellectual disability; motor delay; 18m-walk; language delay; height <-2.5SD, OFC -1.5SD; normal behavior; no eye abnormalities; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; oligospermia; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; no broad nasal tip; no low hanging columella; no thin upper lip vermillion; no wide mouth; no pointed chin 1 1 Johan den Dunnen
00472035 Pat17 PubMed: Diets 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ..., pregnancy breech presentation; birth weight 2590g; mild-moderate intellectual disability; motor delay; 24m-walk; language delay; height -2SD, OFC -1.2SD; delayed social-emotional development; epilepsy, aroxysmal attacks, 3y-EEG Rolandic spikes; no hypotonia (childhood); MRI brain normal; small congenital diaphragmatic hernia; no neonatal feeding difficulties; no eye abnormalities; hearing loss, unilateral with enlarged vestibular aquaduct syndrome; joint hypermobility; no scoliosis; no hand/feet abnormalities; cyclic vomiting; torticollis; obstipation; leg hypertonia; sleeping problems; disturbed balance; no long ears; mild upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; no thin upper lip vermillion; wide mouth; pointed chin 1 1 Johan den Dunnen
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