All individuals with variants in gene KDM2B

39 entries on 1 page. Showing entries 1 - 39.
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00311920 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311921 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00467800 Fam009PatBAB6693 PubMed: Charng 2016 2-generation family, affected brother/sister F;M yes Saudi Arabia - - - - - NDD developmental delay, microcephaly, hypotonia, infantile spasm 1 2 Johan den Dunnen
00471671 patient PubMed: Dinckan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - NDD see paper; ..., absence lower anterior teeth; 2d-surgery anal atresia; 1y6m-surgery ankyloglossia; 7y-mild brachycephaly, low hanging columella, hypoplastic alae nasi, retrognathia; 7y-height 123 cm (50-75th), weight 22 kg (25-50th), OFC 52 cm (25th); 10y-oligodontia (absence lower incisors/canines/two upper premolars/all four lower premolars) 1 1 Johan den Dunnen
00471982 KDM2B_1 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., birth 40w; speech delay, no intellectual disability (SON-IQ86); autism; no hypotonia; no microcephaly; ventricular septal defect, atrial septal defect, fetal atrial flutter; normal kidneys 1 1 Johan den Dunnen
00471983 KDM2B_2 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., brith 38w; normal development; 3y-no intellectual disability; no speech delay, comprehensibility suboptimal because of cleft and middle ear problems; no autism; no hypotonia; no seizures; hypertelorism, short palpebral fissures, short nose with broad nasal tip, surgical scars from correction cleft lip; hemangioma (labium and heel), hypopigmentation left thigh; no cardiac anomalies; cleft lip/palate, congenital contracture PIP 3rd and 4th digit of the left hand, pre-axial polydactyly of the right hand with hypoplastic thumb grade II-III 1 1 Johan den Dunnen
00471984 KDM2B_3.1 PubMed: Van Jaarsveld 2023 2-generation family, affected daugther/father F - - - - - - - NDD see paper; ..., brith 37w; delayed fine motor skills, delayed gross motor skills; severe intellectual disability; no speech; hyperactive behavior, hypersensitivive/sensory overload; hypotonia; no seizures; MRI/CT global atrophy, underdeveloped hippocampi, delayed myelination, cavum septum pellucidum et vergae, small plexus choroid cyst; stereotypic movements; high forehead, arched eyebrows, epicanthal folds, full upper eye lids and cheeks, heterochromia of the irides, anteverted nares, deep philtrum; bilateral hockey-stick creases palms; ventricular septal defect, DORV 1 1 Johan den Dunnen
00471985 KDM2B_3.2 PubMed: Van Jaarsveld 2023 father M - - - - - - - NDD see paper; ..., learning difficulties; speaks full sentences; ADD; no seizures; anteverted nares, deep philtrum, hypoplastic alae nasi, grooved ear lobes; ECG normal; COPD 1 1 Johan den Dunnen
00471986 KDM2B_4.1 PubMed: Van Jaarsveld 2023 2-generation family, affected son/sister/father M - Netherlands - - - - - NDD see paper; ..., brith 33+5 (twin pregnancy); delayed motor development, 18m-walk; mild intellectual disability; speech dealy, speaks full sentences (sometimes mumbling); autism (PDD-NOS); ADHD, behavorial difficulties, tantrums; 13y-focal seizures, 1y/1y6m-possible seizure; weak upper leg musculature (anamnestically); plagiocephaly, low hanging columella, thin lips, square chin 1 1 Johan den Dunnen
00471987 KDM2B_4.2 PubMed: Van Jaarsveld 2023 father M - Netherlands - - - - - NDD see paper; ..., mild intellectual disability, learning difficulties, special education; speaks full sentences; no seizures; low hanging columella, underdeveloped alae nasi, thin lips and prominent, square chin; ecreased renal function (adult); asthma/COPD; 37y-osteoporosis; stroke during episode of pneumonia/meningitis 1 1 Johan den Dunnen
00471988 KDM2B_4.3 PubMed: Van Jaarsveld 2023 sister F - Netherlands - - - - - NDD see paper; ..., brith premature, small for gestational age; mild motor delay; mild-moderate intellectual disability (14y-tIQ48); speaks full sentences (inarticulate); autism (PDD-NOS); behavorial difficulties, easily burst out in anger, anxious personality; no seizures; 5y-EEG normal; 5y-MRI normal; knock knees (anamnestically); high anterior hairline, deeply set eyes, horizontal eyebrows, bifid nasal tip, thin upper lip and broad chin with vertical dimple; mild constipation; urinary incontinence (at night) 1 1 Johan den Dunnen
00471989 KDM2B_5.1 PubMed: Van Jaarsveld 2023 2-generation family, affected son/mother M - - - - - - - NDD see paper; ..., brith 38+3; developmental delay, 3y-walk; mild-moderate intellectual disability; speech delay; autism; no seizures; upslanted palpebral fissures, short philtrum, wide mouth, full lips, wide spaced teeth; recurrent pneumothorax, recurrent otitis, scoliosis, unilateral hearing loss due to cholesteatoma. 2 1 Johan den Dunnen
00471990 KDM2B_5.2 PubMed: Van Jaarsveld 2023 mother F - - - - - - - NDD see paper; ..., no developmental delay; no intellectual disability; dyslexia; no autism; no hypotonia; no seizures; no cardiac anomalies; normal kidneys 2 1 Johan den Dunnen
00471991 KDM2B_6 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., brith 36w; no intellectual disability (non-verbal IQ97), follows normal education; speech delay; no autism; ADHD; no hypotonia; no seizures; MRI/CT normal; cogenital ptosis, deep set eyes, downslanted palpebral fissures,long face, flat face, thin upped and lower lip vermilion, deep philtrum, prominent chin, broad nasal bridge; skin hyperpigmentation neck/hands; no cardiac anomalies; normal kidneys; cryptorchidism; prolonged bleeding after adenotomy (no bleeding disorder identified) 1 1 Johan den Dunnen
00471992 KDM2B_7 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., brith 41+3; global developmental delay, 18m-walk; no intellectual disability (IQ83), learning difficulties; speech delay, understand more than speaks, 3y-some words, 7y-short sentences; autism (PDD-NOS); ADHD; no hypotonia; no seizures; EEG normal; MRI/CT normal; hypertonia from birth; progressive partly congenital contractures (no myotonia; no paresis); upslanted palpebral fissures, long face, upturned nasal alae, cuppid-bow lips,flat, broad nasal bridge, deep philtrum, thin upper lip vermilions, thin lower lip vermilion, overfolded helix; flat feet, exorotation of foot; mild pulmonary stenosis, atrial septal defect corrected with operation; normal kidneys; inguinal hernia;myopia behavioral problems (impulsive); normal hearing 1 1 Johan den Dunnen
00471993 KDM2B_8 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no intellectual disability; mild language delay; no autism; no hypotonia; no seizures; mild miteral regurgitation, small patent ductus arteriosus, mild pulmonic stenosis, moderate atrial septal defect; single kidney with cortical cysts/calcifications, 6y6m-normal kidney function 1 1 Johan den Dunnen
00471994 KDM2B_10 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., brith 37w; no developmental delay; mild intellectual disability (8y-IQ66); normal speech; no autism; no seizures; MRI/CT prenatally posterior fossa cyst, fetal macrosomia, 7y-MRI normal ; brachycephaly, ocular proptosis, hypertelorism, exophtalmia, sparse hair; pectus excavatum, skin hyperpigmentation, wide intermamillary distance; atrial septal aneurysm, moderate mitral regurgitation; normal kidneys; distal hyperlaxity 1 1 Johan den Dunnen
00471995 KDM2B_11 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., brith 40+1; global developmental dela; intellectual disability; speech delay, 5y-short sentences; autism spectrum disorder; hyperactive; hypotonia; refractory infantile spasms, tonic drop seizures; EEG initially modified hypsarrhythmia with electroclinical spasms, evolved into generalized and multifocal spikes in sleep and awake; MRI/CT brain malformations, multifocal areas bilateral periatrial gray matter heterotopia, 2 foci of right frontal subcortical gray matter heterotopia, signal abnormality within adjacent parietal white matter, extending to overlying cortex (suspicious for multiple focal cortical dysplasias), asymmetric gyral folding right inferior frontal lobe/left mesial frontal lobe, hypoplasia anterior commissure; walking without difficulty; no facial dysmorphism; normal EKG; skin two hypopigmented macules (right lower back, gluteal cleft); subtle variability iskin color on torso possibly representing confetti skin changes under woods lamp only; few small, hypopigmented patches in mid-periphery left retina 1 1 Johan den Dunnen
00471996 KDM2B_12 PubMed: Monies 2017, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., hypotonia; polyhydramnios, club foot, contractures, multiple arthrogryposis, undescended testis 1 1 Johan den Dunnen
00471997 KDM2B_13 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., brith 40w; moderate developmental delay; mild intellectual disability; moderate speech delay; no autism; hypotonia; no seizures; MRI normal; synophrys, arched eyebrows, narrow bifrontal diameter, small oral opening; pectus excavatum, contracture left 5th finger; pulmonic stenosis, atrioseptal defects (x2), birth patent ductus arteriosus/patent foramen ovale; normal kidneys; anteriorly placed anus; 3 hemangiomas, precocious puberty; birth poor suck; feeding difficulties (G-tube fed); overgrowth 1 1 Johan den Dunnen
00471998 KDM2B_14 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., brith 42w; moderate global developmental delay; intellectual disability (Griffiths 4y-IQ64); speech delay, only few words; no autism; 2y-hetero-aggressive behavior, hyperactivity; hypotonia; seizures; 2y6m/12y-EEG generalized paroxysisms, epileptiform abnormalities; MRI/CT reduced brain volume, ex-vacuo dilatation lateral asymmetric venticles (left>right), reduced white matter involving corpus callosum, cerebellar hypoplasia involving mainly inferior vermis, large cisterna magna, thin quadrigeminal lamina, occipital plagiocephaly; motor delay; postnatal macrocephaly, frontal bossing, right preauricular sinus, mild bleharophimosis, palpebral fissures; plagiocephaly, cubitus valgus, hypoplastic thenar and hypotenar eminences, hypoplasia of palmar creases, short 3rd fingers (3rd centile, with normal palm lenght); 2y5m-normal echoscan, 6y-8y-QT interval at superior limits, -9yQT interval normal; recurrent cystitis, 12y-normal abdominal echoscan; 2y6m/12y2m-normal eye fundus; growth failure, BMI 14.47 (<3th centile) 1 1 Johan den Dunnen
00471999 KDM2B_17 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., brith 39w+1; moderate developmental delay; presumed intellectual disability; speech delay, primarily nonverbal; autism; acts out; hypotonia; seizures; EEG slow wave pattern; MRI/CT small subarachnoid hemorrhage (infancy), three, tiny foci of T2/flair hyperintense signal within left posterior centrum semiovale/periatrial white matter, 4y-polymicrogyria; Motor delay, toe walking; narrow palpebral fissures, upturned nasal tip, anteverted nares, downturned corners of the mouth; birth patent foramen ovale; normal kidneys; failure to thrive, <2y-feeding difficulties; overweight; frequent ear infections; difficulty getting to sleep 1 1 Johan den Dunnen
00472000 KDM2B_18 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., brith 34w; moderate global developmental delay; speech delay; MRI normal; global developmental delay; facial asymmetry, epicanthal folds, retrognathia; plagiocephaly, clinodactyly; unilateral kidney agenesis; coloboma; failure to thrive; hypertrichosis 1 1 Johan den Dunnen
00472001 KDM2B_19 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., brith 36w; severe developmental delay; intellectual disability; no speech; hypotonia; occasional clonic seizures; EEG abnormal right centro-temporal spikes; MRI/CT periventricular white matter gliosis, thin corpus callosum; epicanthus, low-set ears, thin eyebrows, mild micrognathia; atrial septal defect; bilateral thrombotic microangiopathy; severe neurosensorial hypoacusis; thrombocytopenia; atypical hemolytic uremic syndrome 1 1 Johan den Dunnen
00472002 KDM2B_20 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., brith 39w; speech delay, sentences; mild autistic features;; no seizures; oculomotor defect (right lateral muscle); high forehead, pseudo-synophrys, enophtalmy, bitemporal narrowing, thick lips, open mouth; fine skin; flat feet; ultrasound ow grade mitral insuffciency; ECG normal; normal ultrasound; scoliosis 1 1 Johan den Dunnen
00472003 KDM2B_22 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., brith 41w; no developmental delay; no intellectual disability; speech delay; no autism; hypotonia; no seizures; EEG normal; MRI/CT left small rudimental eye with unrecognizable optic nerve, left lateral ventricular dilatation; neonatal period hypotonia of upper limbs, hypertonia lower limbs; unilateral anophthalmia (left), hypoplasic eyebrow (left), facial asymetry, retrognathia, eversion of lower lip, posterior plagiocephaly (left), broad forehead, bulging forehead; plagiocephaly (suspected); no cardiac anomalies; unilateral kidney agenesis (left); sensorineural hearing loss; unilateral anophthalmia (left) 1 1 Johan den Dunnen
00472004 KDM2B_23 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., brith 38w; delayed development, delayed motor development; 3y5m-no stand; severe intellectual disability; no speech; no autism; hypotonia; no seizures; motor delay, lower limb muscle weakness, decreased muscle mass bilateral lower limb; mild hypertelorism; atrial septal defect (after receiving operation); left kidney defect, genesis, right vesicoureteral reflux; squint, congenital obstructio ductus nasolacrimalis 1 1 Johan den Dunnen
00472005 FamPatIV9;KDM2B_24.1 PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 4-generation family, 3 affected sibs/mother F - Japan - - - - - NDD see paper; ..., poor grades in elementary/middle school; intellectual disability (31y-IQ39); epicanthus, retrognathia; schizophrenia 1 1 Johan den Dunnen
00472006 FamPatIII4;KDM2B_24.2 PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 mother F - Japan - - - - - NDD see paper; ..., worked as dressmaker, graduated elementary school; schizophrenia 1 1 Johan den Dunnen
00472007 FamPatIV5;KDM2B_24.3 PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 older sister F - Japan - - - - - NDD see paper; ..., intellectual disability, resource room class in middle school, worked in spinning factory; schizophrenia 1 1 Johan den Dunnen
00472008 FamPatIV8;KDM2B_24.4 PubMed: Yokotsuka-Ishida 2021, PubMed: Van Jaarsveld 2023 older brother M - Japan - - - - - NDD see paper; ..., moderate-severe intellectual disability(20y-IQ35); speech delay, simple words; schizophrenia 1 1 Johan den Dunnen
00472009 patient;Pat8;KDM2B_25.1 PubMed: Chouery 2013, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 2-generation family, affected daugther/father F - Lebanon - - - - - NDD see paper; ..., brith at term; moderate-severe developmental delay; severe intellectual disability; no speech; hypotonia; refractory infantile spasms (now controlled); EEG hypsarrhythmia; MRI/CT mild diffuse atrophy; never walked; flat face, full cheeks, bulbous nasal tip, thin lower lip, highly arched palate, retrognathia, narrow ear orifices, 4 café-au-lait spots (back, thigh, 2 buttocks); no cardiac anomalies; normal renal function; normal hearing; normal vision; younger age constipation; bilateral hip luxation; no menarche yet; very small breasts (p1 stage) 1 1 Johan den Dunnen
00472010 father;KDM2B_25.2 PubMed: Chouery 2013, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 father M - Lebanon - - - - - NDD see paper; ..., no developmental delay; no intellectual disability; no speech delay; no autism; no hypotonia; no seizures; 14y-insulin dependent diabetes 1 1 Johan den Dunnen
00472011 Pat9;KDM2B_29 PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., developmental delay; intellectual disability; delayed speech; autism; ADHD; prominent forehead, telecanthus, epicanthus, short upturned nose, large nose bridge, full cheeks, full lower lip, short philtrum, macroglossia, prognathism; clinodactyly; preauricular tags, irregular teeth, oligodontia 1 1 Johan den Dunnen
00472012 DGDP343;Pat10;KDM2B_30 PubMed: Labonne 2016, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Korea - - - - - NDD see paper; ..., brith 41+5; 6m-torticollis, developmental delay, now severe development delay; not walking, lost crawl; no speech; intellectual disability; social engagement very limited, autism spectrum diagnosis; mild-moderate hypotonia; seizures, changed from myoclonic to tonic/tonic clonic; EEG generalized epileptiform activity; MRI normal; displayed some unusual finger movements, repetitive scratching one arm, high pain tolerance; narrow face, prominent forehead, hypertelorism; mild tapering fingers, mild plagiocephaly; no cardiac anomalies; normal kidneys; poor head righting bilaterally, mild-moderate head lag, significant tightness in motion; 19m-eizures; MRI brain normal; wheelchair bound; G-tube fed; incontinence 1 1 Johan den Dunnen
00472013 KDM2B_31 PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., brith 40+6; mild developmental delay, 15m-walk, oral disorders; mild-moderate ID; delayed speech, few words; no hypotonia; no seizures; MRI/CT thin callosum corpus,delayed frontal myelination, posterior fossa cyst; stereotypic movements; thin long face, helix crus absent, large lobe, square chin, enophtalmia, hypotelorism, upslanted palpebral fissures; hyperpigmentation shoulder; atrial septal defect with right ventricular dilatation; normal kidneys ultrasound; bilateral talus pes, unilateral cryptorchidism, kyphosis,; congenital obstruction ductus nasolacrimalis 1 1 Johan den Dunnen
00472014 09-99A;Pat11;KDM2B_33 PubMed: Qiao 2013, PubMed: Krzyzewska 2019, PubMed: Van Jaarsveld 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., brith 40+3; global developmental delay; moderate ID; speech delay, very limited speech; autism, confirmed psychometrically, moderate-severe intellectual disability; deterioration of verbal expression progressing to selective mutism in adolescence, anxiety disorder, poor visual attention, poor social reciprocity, very socially withdrawn, preference for routine/ritualized behaviours, shows repetitive mannerisms including twirling hair/picking/scratching various parts ear/face; hypotonia; seizures, occassional staring spells, usually responsive to name and showing normal EEG; EEG normal; MRI/CT normal; complex language disorder, mixed learning disorder, anxiety disorder; moderate intellectual disability; strabismus; coarsened, mildly dysmorphic facial features with up-slanting palpebral fissures, synophrys, small, low-set and posteriorly rotated ears, high nasal root with thick alae nasi and a square tip, prominent front incisors, narrow palate; very tapered fingers, prominent fingertip pads, bilateral hypoplastic nails both halluces; symmetric tall stature; X-ray chest thoracic vescera heart size upper limit of normal; normal kidneys; Bilateral bronchial thickening and lower airway inflammation identified. Prior episode of right middle and lower lobe air space opacity, consitent with pneumonia; patchy red raised skin, thick ichthyotic skin, diagnosed with a T-cell skin lymphoma (mutliple hyper-pigmented patches involving trunk/limbs) consistent with mycosis fungoides (intermittent radiation treatment); normal ophthalmology; normal audiology assessments 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
00472016 patient PubMed: Yokotsuka-Ishida 2021 patient - - Japan - - - - - NDD - 1 1 Johan den Dunnen
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