All individuals with variants in gene KDM2A

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00311919 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00471715 Pat1 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., normal pregnancy; birth 40w; neonatal poor feeding; birth length 50cm (P25-50), weight 4080g (P91-98); 5y3m-length 92.1cm (<P1, -2.6 SD), 3y4m-OFC 47.2cm (P2, -2.0 SD); global developmental delay; delayed speech development; delayed motor development; severe intellectual disability; no developmental regression ; secondary microcephaly; behavioral abnormalities; some autistic traits; 18m-sit; 3y7m-walk; social smile on time; 2y6m-first words; no seizure; EEG occasional subtle sharp transients in right posterior region, significance uncertain; 11y-MRI brain normal; hypotonia, hyporeflexia; midface hypoplasia, epicanthic folds, lowset & posteriorly rotated ears, saggy cheeks; normal cranial morphology; feeding difficulties, difficulties gaining weight, nasogastric tube feeding necessary; no hearing loss; glasses for left eye, visual acuity 0.3 at 1 metre; no nystagmus; normal cardiovascular system; normal spine morphology; overlapping 2nd toes, hirsutism; hypothyroidism 1 1 Johan den Dunnen
00471716 Pat2 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD see paper; ..., pregnancy recurrent vaginal bleeding treated with progestrone; birth at term; neonatal period normal; birth length P70, weight 3400g (P43, -1.8 SD), OFC P50; length P14, weight P57, OFC P70; global developmental delay; delayed speech development; delayed motor development; severe intellectual disability; no developmental regression ; no microcephaly; behavioral abnormalities; autism; 6y-no speech; no seizure; -; 1yMRI brain normal; normal coordination; normal muscle tone; large pinnae; helical defomities; depressed nasal bridge; small jaw; short forehead; life-long constipation, mild esophagitis due to reflux; unilateral hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology 1 1 Johan den Dunnen
00471717 Pat3 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - Anglo-Celtic - - - - NDD see paper; ..., normal pregnancy; birth 40w; neonatal CPAP <24h, SCN for IVAB (maternal GBS+, suspected sepsis), feeding difficulties, poor weight gain; birth weight 2830g (P4, -1.8 SD); length 109.8cm (<P3), weight 15.4kg (<P3), OFC 48.3cm (<P2); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; secondary; ADHD; no autism; 14m-walk; social smile on time; 2y-first words; no seizure; -; fine motor delay; triangular facial features; normal cranial morphology; gastrointestinal abnormalities, feeding difficulties; no hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology; one pigmented macule on back 1 1 Johan den Dunnen
00471718 Pat4 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - Afghanistan - - - - - NDD see paper; ..., normal pregnancy; birth at term; neonatal newborn jaundice (phototherapy); birth weight 3500g (P52, mean); length 149cm (<P1, -3 SD), weight 52.8kg (P22, -0.8 SD), OFC 54cm (P16, -1 SD); global developmental delay; delayed speech development; delayed motor development; severe intellectual disability; no developmental regression ; no microcephaly; no autism; delayed motor skills, 2y-walk; 25y-no speech ("problem is tongue"), communicates skillfully with facial expressions and gestures, speech impairment potentially caused by perisylvian syndrome when taking MRI findings into consideration; 10y-seizure, focal lesional onset of epileptic seizures; EEG interictal biparietal focal epileptiform discharges; 23y-MRI brain lissencephaly spectrum/cobblestone malformation/polymicrogyria with anterior maximum (diffuse gliosis, heterotopia, simple ventricular structure In sum a disturbed neuronal migration and organization of cortex; normal coordination; normal muscle tone; ascending eyelid axis, narrow mouth with thin upper and lower lip vermillion, facial asymmetry (after nasal fracture), conical tapered fingers, upslanted palpebral fissures; normal cranial morphology; sialorrhea; no hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology 1 1 Johan den Dunnen
00471719 Pat5 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., intrauterine growth restriction; birth 38w; neonatal neonatal jaundice, feeding difficulties; birth length 44cm (P1, -2.3 SD), weight 2480g (P8, -1.4 SD), OFC 31cm (P2, -2.0 SD); length 153cm (P19, -0.8 SD), weight 32.5kg (<P1, -3.0 SD), OFC 50cm (<P1, -3.5 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; primary microcephaly; normal behavior; no autism; <18m-sit; 21m-walk; 12m-first words; 1y-generalized seizure; EEG unremarkable; MRI brain normal; normal coordination; normal muscle tone; triangular face, pointed chin; normal cranial morphology; feeding difficulties; divergent strabismus; no nystagmus; normal cardiovascular system; normal spine morphology; patient passed away at age 14 due to acute respiratory distress syndrome in the context of a complicated flu 1 1 Johan den Dunnen
00471720 Pat6 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., intrauterine growth restriction; birth 37+2w; neonatal feeding difficulties with need for enteral nutrition; birth length 45.5cm (P40, -0.2 SD), weight 1900g (P6, -1.6 SD), OFC 32cm (P25, -0.7 SD); length 117cm (<P1, -3.6 SD), weight 17kg (<P1, -5.5 SD), 7y-OFC 49cm (<P1, -2.7 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; primary microcephaly; ADHD; no autism; 12m-sit; 18m-walk; 20m-first words; no seizure; MRI brain normal; normal coordination; normal muscle tone; bilateral epicanthus; normal cranial morphology; feeding difficulties; no hearing loss; hypermetropia +2,5; no nystagmus; normal cardiovascular system; cryptorchidism; normal spine morphology 1 1 Johan den Dunnen
00471721 Pat7 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., pregnancy polyhydramnios; birth 41+2w; neonatal suctioning, brief oxygen required after delivery, jaundice treated with phototherapy; birth length 47cm (P16, -1.0 SD), weight 2920g (P17, -1.0 SD), OFC 35cm (P57, 0.2 SD); length 102cm (<P1, -3.0 SD), weight 15kg (<P1, -2.5 SD), OFC 51cm (P39, -0.3 SD); global developmental delay; speech delay, eEarly language milestones on time, then delayed speech language acquisition; Yes - Gross motor milestones were delayed, currently still has fine motor delays; mild intellectual disability; no developmental regression ; no microcephaly; ADHD, aggressive behavior, emotional lability, abnormal social behavior with peers, sensitivity to stimuli; autism; 12m-sit; 20m-walk; 2y-first words; no seizure; EEG abnormal due to frequent occipital sharp waves over the right occipital region with rare bilateral synchronous occipital discharges; MRI brain cerebellar tonsillar ectopia without hydrocephalus, suggestive of Chiari I malformation; normal coordination; hypotonia; frontal bossing, short and upturned nose, broad nasal bridge, epicanthal folds, low set left ear, high anterior hairline, and temporal narrowing; plagiocephaly, relative macrocephaly; feeding difficulties as an infant, history of constipation; no hearing loss; farsightedness, alternating exotropia; no nystagmus; Wolff-Parkinson-White syndrome; frenulectomy; bilateral hip dysplasia s/p corrective surgery; congenital torticollis; normal spine morphology 1 1 Johan den Dunnen
00471722 Pat8 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., intrauterine growth restriction; birth 36+3w (induced delivery due to the intrauterine growth restriction); neonatal feeding difficulties/poor feeding; birth length 41.5cm (P1, -2.3 SD), weight 1590g (<P1, -3.1 SD), OFC 29.5cm (P2, -2.0 SD); length 89cm (-2.5/-3 SD), weight 9.9kg (-3.5 SD), OFC 46.5cm (<P1, -2.5 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; secondary; normal behavior; no autism; 10m-sit; 31m-walk; no seizure; MRI brain normal; normal coordination; normal muscle tone; protruding metopic suture, upslanted palpabral fissures, bilateral epicanthus, thin lower lip; trigonocephalic aspect; severe feeding difficulties, poor weight gain; no hearing loss; strabism; no nystagmus; normal cardiovascular system; normal spine morphology; delayed temporary teeth eruption shoulder dimples 1 1 Johan den Dunnen
00471723 Pat9 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., normal pregnancy; birth 32w; neonatal period normal; birth length 49cm (P97, 1.9 SD), weight 2500g (P95, 1.7 SD),; length 147cm (P8, -1.4 SD), weight 100kg (P99, 3.0 SD); global developmental delay; delayed speech development; normal motor development; learning disability; developmental regression ; no microcephaly; normal behavior; autism; sits on time; walk on time; no seizure; normal coordination; normal muscle tone; no dysmorphic features; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss; no ophthalmologic abnormalities; normal cardiovascular system; normal spine morphology; loss of acquired social skills at 24 months 1 1 Johan den Dunnen
00471724 Pat10 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., normal pregnancy; birth 34+5w; neonatal NICU 12d for prematurity; birth weight 2300g (P60, 0.3 SD); length 163cm (P66, 0.4 SD), weight 49.3kg (P54, 0.1 SD), OFC 54.5cm (P67, 0.4 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; no microcephaly; ADHD-hyperactive type, sensory and auditory processing disorder; no autism; 6m-sit; 12m-walk; early social smile; 9m-speech mama dada, 3y-difficult to understand speech, 13y6m- challenges with social pragmatics and mild expressive language issues; 9y-generalized seizure; EEG frequent runs of 2-2.5Hz generalized spike-wave discharges lasting from 6-60 seconds, sometimes punctuated by brief, lower amplitude theta activity were seen during periods of wakefulness, drowsiness, and stage I/II sleep; MRI brain normal; normal coordination; normal muscle tone; no dysmorphic features; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology; history of severe asthma now under good control 1 1 Johan den Dunnen
00471725 Pat11 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., prolonged labor due to large for gestational age; birth at term; hypotonia in infancy; birth weight 4420g (P98, 2.0 SD); length 22.6cm (P78, - 0.8 SD), weight 125.2 cm (P99, 2.3 SD), OFC 55.8cm (P99, 2.3 SD); no global developmental delay; normal speech development; mild delay motor development; mild intellectual disability; no developmental regression ; Asperger like; autism; mildly delayed ability to sit; mildly delayed ability to walk; 17m-50 word vocabulary, 2y6m-advanced language development; 5m-seizure, epileptic spasms; h5m-EEG dypsarrhythmia, 10m-normal; uncoordinated, not good at sports, fatigues easily; mild hypotonia with increased joint mobility; autism spectrum, misses social cues and context in many situations, 13y-some perseveration; 2y-therapy for sensory integration, executive functioning; no hearing loss; no ophthalmologic abnormalities; normal cardiovascular system 1 1 Johan den Dunnen
00471726 Pat12 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., intrauterine growth restriction, reduced fetal movements; birth 38+5w; neonatal hypoglycemia that resolved with formula; birth length 48cm (P5, -1.6 SD), weight 2438g (P1, -2.3 SD); length 102.25cm (<P1, -2.5 SD), weight 14.7kg (<P1, -2.9 SD), OFC 49.5cm (P7, -1.5 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; no microcephaly; behavioral concerns and delayed processing; <7m-sit; 18/19m-walk; 18m-first words; no seizure; hypotonia; bilateral epicanthus, upslanted palpebral fissures, protruding ears; normal cranial morphology; history of constipation; pes planus and increase in flexibility bilateral ankles; delayed bone age of 1 year with SD of 2.7 months and chronological age of 1 year 5 months 1 1 Johan den Dunnen
00471727 Pat13 PubMed: Anderson 2026 2-generation family, 1 affected fetus, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., intrauterine growth restriction, microcephaly; birth 27w (pregnancy terminated); neonatal; birth length 36cm (<P5), weight 620g (<P5), OFC (prenatal measurements <P5); primary microcephaly; MRI brain normal; normal cardiovascular system; normal spine morphology 1 1 Johan den Dunnen
00471728 Pat14 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., normal pregnancy; birth 39+6w; neonatal transient respiratory distress; birth length 48.5cm (P4, -1.7 SD), weight 3090g (P12, -1.2 SD), OFC 34cm (P12, -1.2 SD); length 160cm (P63, 0.3 SD), weight 413.kg (P24, -0.7 SD), OFC 53.8cm (P9, -1.3 SD); global developmental delay; delayed speech development; delayed motor development; learning disability; no developmental regression ; no microcephaly; ADHD, impulsivity, anxiety; no autism; <9m-sit; 18m-walk; 12m-first words, 4y-first sentences; no seizure; MRI brain normal; abnormal coordination; normal muscle tone; high palate, supernumerary nipple, thin vermilion of the upper lip; normal cranial morphology; no hearing loss; mild hypermetropia; no nystagmus; normal cardiovascular system; normal spine morphology; dyspraxia, left pectus excavatum, café-au-lait spots 1 1 Johan den Dunnen
00471729 Pat15 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., intrauterine growth restriction; birth 40+1w; neonatal period normal; birth length 47cm (<P1, -2.4 SD), weight 2510g (P2, -2.0 SD), OFC 33cm (P3, -1.9 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; normal behavior; no autism; 2y-walk; 18m-first words; no seizure; normal muscle tone; micrognathia, mildly upslanted palpebral fissures; normal cranial morphology; no hearing loss; pulmonary valve stenosis, small VSD, persistent ductus botalli (PDA) and ASD2, biscuspid aortic valve with aortic insufficience and double aortic arch; partial pancreatic agenesis, duplication left urether, and reflux right kidney, necessitating dilatation and bilateral urether reimplantation because of recurrent infections, recurrent otitis media; umbilical hernia, chronic lymphedema abdomen/scrotal area 1 1 Johan den Dunnen
00471730 Pat16 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., intrauterine growth restriction, gastrointestinal and urinary tract infection of the mother before birth; birth 40+2w; neonatal period normal; birth length 50cm (P12, -1.2 SD), weight 2720g (P2, -2.0 SD), OFC 33.5cm (P5, 1.7 SD); length 106.3cm (<P1, -2.4 SD), weight 16.6kg (P2, -2.1 SD), OFC 53.5cm (P85, 1.0 SD); no global developmental delay; initially normal speech development, 3y-abnormal speech development; normal motor development; mild intellectual disability; no developmental regression ; no microcephaly; suspected hyperkinesia; 6m-sit; walk on time; <2y-two-word sentences; no seizure; 5y-EEG age-appropriate basic activity, during sleep right frontal, temporo-occipital and left frontal accentuated multifocal irregular sharpwaves and spikes without generalization; 4y/6y-MRI brain multiple T2w hyperintens white matter lesions accentuated subcortical frontal bilateral and periventricular; normal coordination; normal muscle tone; graphomotor delay; micrognathia, thin upper lip, small midface; trigonocephalic aspect; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss, status post tympanostomy tubes; hyperopia, astigmatism; no nystagmus; normal cardiovascular system; normal spine morphology; short stature 1 1 Johan den Dunnen
00471731 Pat17 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., maternal shingles, prenatal testing showed increased risk for Down syndrome, bilateral club feet identified on prenatal ultrasound; birth 39w; neonatal period normal; birth length 45.7cm (<P1, -3.0 SD), weight 2608g (P2, -2.0 SD); length 152cm (P8, -1.4 SD), weight 40.4kg (P10, -1.3 SD), OFC normal; global developmental delay; delayed speech development; delayed motor development; severe intellectual disability; behavioral regression, some developmental regression with shoe tying; no microcephaly; ADHD, oppositional defiant disorder, anxiety; no autism; 6m-sit; 18m-walk; very early social smile; 6m-first words; 4y-focal seizure; 13y-mildly abnormal EEG in wakefulness through slow wave sleep due to diffuse excessive beta which is a non specific finding which may be seen in the setting of certain medications, such as benzodiazepines as this child is on. aEEG age 12y: This is an abnormal ambulatory EEG in the awake and asleep states due to abundant focal sharp waves occurring independently in the right great than left centrotemporal regions, increasing during sleep and reaching a spike wave index of 80%. In the correct clinical context this EEG is consistent with ESES (electrographic status epilepticus of sleep). rEEG age 12y : This is an abnormal routine EEG in the awake and drowsy states due to: 1) Frequent focal sharp-waves in the right centrotemporal region; 2) Rare focal sharp-waves in the left centrotemporal region. rEEG age 12y: A previous EEG report is abnormal in the awake and drowsy state due to frequent independent multifocal spike wave discharges, potentiated in drowsiness. 3 day EEG age 12y: This concludes 3 days of LTM monitoring, during which time no seizures or patient events were recorded. The EEG demonstrated frequency bilateral independent central/centro-temporal sharp and slow wave discharges with a high burden of epileptiform activity during sleep, potentially consistent with ESES in the appropriate clinical setting; 12y-MRI brain left middle cranial fossa encephalocele; delayed coordination for age, instability on heel to toe walk, and mildly impaired balance; inverted nipples; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss; myopia, astigmatism; no nystagmus; normal cardiovascular system; normal spine morphology; Short stature, clubfoot, mildly poor balance, poor hand eye coordination, instablity on heel to toe walk 1 1 Johan den Dunnen
00471732 Pat18 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., intrauterine growth restriction; birth 35+3w; neonatal hospitalized for 3 days due to neonatal jaundice; birth length 41cm (<P1, -3.0 SD), weight 1690g (<P1, -2.7 SD), OFC 31.5cm (P10, -1.3 SD); length 139cm (P31, -0.5 SD), weight 31.5kg (P16, -1.0 SD), OFC 55cm (P90, 1.3 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; no microcephaly; anxiety, tends to avoid social interactions when he doesn't know the person; 14m-sit; 23m-walk; social smile on time; 2y6m-speech "mom" and "dad", 9y-first sentences; no seizure; 4y-MRI brain small hypophysis; normal coordination; normal muscle tone; low-set ears, thin upper lip with long filtrum, retrognathia, long and narrow nose; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; discrete conductive hearing loss, better with trans-tympanic ventilation tubes; strabism; no nystagmus; normal cardiovascular system; left extra-sinus renal pelvis; normal spine morphology; 2 pneumonias with last one taken care in ICU, recurrent otitis, failure to thrive, cryptorchidism 1 1 Johan den Dunnen
00471733 PatS19 PubMed: Anderson 2026 adopted child F - - - - - - - NDD see papeer; ..., normal pregnancy; birth at term, weight 3300g; normal neonatal period; length P88, +1.16 SD, weight P48, -0.04 SD, OFC P99, +2.3 SD; global developmental delay; delayed speech development; normal motor development; mild intellectual disability; no developmental regression ; no microcephaly; ADHD; autism; <18m-walk; no seizures; normal coordination; normal muscle tone; bilateral epicanthus, broad nasal bridge and broad nose; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology 1 1 Johan den Dunnen
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