All individuals with variants in gene CLCN4

128 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 6 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 7 1 Yu Sun
00163911 - - - F - (Germany) - - - - - ? Microcephaly (HP:0000252); Global developmental delay (HP:0001263) 1 1 IMGAG
00172437 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 6 Lucy Raymond
00172438 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172439 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172440 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172441 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183171 FamMRX49/L19;FamA PubMed: Hu 2016, PubMed: Palmer 2018 4-generation family, 7 affected (2F, 5M) F;M - Belgium - - - - - MRX;IDX see paper; ..., males mild intellectual disability (1/5)/moderate intellectual disability (3/5)/severe-profound intellectual disability (1/5), females mild intellectual disability (1/2); delayed speech (4/5); males no issues (3/5)/aggression (2/5)/repetitive autistic behaviors (1/5), females autistic features (1/2); seizures (1/5), absence (1/1), well controlled on monotherapy, 7ymedication ceased; EEG no epileptiform activity; infantile hypotonia (2/2); OFC 50th-97th centile, weight 75th-90th centile, length 25th->98th centile; long face (3/3), flat midface; (1/3) prominent chin (2/3), deep-set eyes (1/3), lean body habitus (2/3) 1 4 Johan den Dunnen
00183172 FamMRX15/T8;FamC PubMed: Hu 2016, PubMed: Palmer 2018 3-generation family, 5 affected (5M), 2 unaffected carrier females M - France - - - - - MRX;IDX see paper; ..., severe intellectual disability (1/3); profound intellectual disability (2/3); delayed speech (3/3); hyperactivity (2/3), slowness and apathy(1/3), perseverations (3/3), anxiety (2/3); no seizures; infantile hypotonia (3/3), strabismus (2/3); no late-onset neurological features (3/3); MRI brain 29y-cortical atrophy (1/3), normal (1/3); OFC 95th centile, weight 50th centile, length 75th-97th centile; long face (3/3), prominent chin (3/3), facial asymmetry (2/3), flat midface (3/3),lean body habitus (3/3); scoliosis (3/3) 1 5 Johan den Dunnen
00183173 FamN70;FamD PubMed: Hu 2016, PubMed: Palmer 2018 2-generation family, 1 affected M - Netherlands - - - - - MRX;IDX see paper; ..., moderate intellectual disability; no delayed speech; anxiety; no seizures; long face and prominent chin 1 1 Johan den Dunnen
00183174 FamAU27;FamE PubMed: Hu 2016, PubMed: Palmer 2018 5-generation family, 4 affected (5M), 1 unaffected carrier female M - Australia - - - - - MRX;IDX see paper; ..., mild intellectual disability (1/3), moderate intellectual disability (2/3); delayed speech (1/3); significant behavioural concerns requiring medication (1/3), depression (1/3 onset late adolescence), bipolar disorder (1/3); <1y--onset seizures (1/3), complex partial, well controlled on carbamazepine monotherapy; EEG mildly abnormal due to slow background rhythm; infancy neurological features (1/3); 17y-described as clumsy, fatigues after walking 15 min. (1/3); MRI brain 16y-small perivascular spaces seen in the inferior aspects of the putamen bilaterally; OFC 50th centile, weight 25th-50th centile, length 25th-50th centile; long face (1/2), mild proptosis and prominent ears (1/2); gastro-oesophageal reflux (1/1) 1 4 Johan den Dunnen
00183175 FamAU9;FamF/Au4 PubMed: Hu 2016, PubMed: Palmer 2018 5-generation family, 9 affected (2F, 7M), 2 unaffected carrier females F;M - Australia - - - - - MRX;IDX see paper; ..., 12y/16y/19y-seizure related death; mild intellectual disability (1/8), moderate intellectual disability (2/8), severe intellectual disability (5/8); delayed speech (4/8); significant behavioural concerns including aggressive behavior requiring medication (3/8), hyperactivity (1/8), bipolar disorder (1/8); infancy/early childhood-onset seizures (8/8), complex partial drop attacks and generalized/grand mal seizures, 2/8 well controlled on monotherapy, 6/8 intractable to polytherapy; 1 EEG potentially epileptogenic activity throughout recording; infancy no neurological features; progressive spasticity (2/8), progressive unsteady gait (2/8); MRI/CT brain (2/8) marked supra and infratentorial atrophy and callosal thinning, cortical atrophy, corpus callosum hypoplasia on post mortem (1/8); OFC 50th-98th centile, weight 3rd-75th centile, length 25th->98th centile; long face (4/6) with prominent chin (4/6), slightly ‘coarse’ facial features with depressed nasal bridge (4/6) 1 9 Johan den Dunnen
00386929 UPN-1267 PubMed: Monies et al 2019 - F no Saudi Arabia - - - - - NDD Microcephaly, Intellectual disability, white matter changes and hypotonia 1 1 Alexander Groffen
00395575 RP-1018 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease astigmatism, early onset rod-cone dystrophy, hypermetropia, strabismus, global developmental delay, tip-toe gait, talipes equinovarus, anteverted nares, broad nasal tip, depressed nasal bridge, hypertelorism, long philtrum, low anterior hairline, narrow palate, retrognathia, thin vermilion border 1 1 LOVD
00395581 RP-1321 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease rod-cone dystrophy, cochlear malformation, cerebral hypomyelination, attention deficit hyperactivity disorder, autistic behaviour, global developmental delay, language impairment, generalized hypotonia, recurrent pneumonia, genu valgum, pes planus 1 1 LOVD
00424012 - - - F no China - - - - - MRXSBL;MRX60 intellectual disability (HP:0001249), global developmental delays (HP:0001263), hypertonia (HP:0001276), delayed ability to walk (HP:0031936) 1 1 Chunli Wang
00424013 - - - F no - - - - - - MRXSBL;MRX60 intellectual disability (ID) or global developmental delay (GDD), language delay, special microcephaly facial features, esotropia, and hypertonia 1 1 Chunli Wang
00424069 - - - F no China - - - - - MRXSBL;MRX60 intellectual disability (HP:0001249), global developmental delays (HP:0001263), hypertonia (HP:0001276), delayed ability to walk (HP:0031936) 1 1 Chunli Wang
00424070 - - - F no China - - - - - MRXSBL;MRX60 intellectual disability (HP:0001249), global developmental delays (HP:0001263), hypertonia (HP:0001276), delayed ability to walk (HP:0031936) 1 1 Chunli Wang
00424071 - - - F no China - - - - - MRXSBL;MRX60 intellectual disability (HP:0001249), global developmental delays (HP:0001263), hypertonia (HP:0001276), delayed ability to walk (HP:0031936) 1 1 Chunli Wang
00427667 PatC PubMed: Veeramah 2013 2-generation family, 1 affected, unaffected non carrier parents M - United States - - - - - EE detached placenta, mild fetal distress, birth C-section; complex partial seizures, secondarily GTC, some prolonged, not fully responsive to medications, now refractory; EEG 8m-bilateral independent high-amplitude spikes, L>R, bursts of generalized spike/polyspike-wave; mcrocephaly (2nd centile), delayed milestones, diffuse hypotonia, dystonic posturing arms; smiles, follows, reaches; unable to sit/roll over; no regression; MRI brain corpus callosum hypoplasia, increased FLAIR signal white matter 1 1 Johan den Dunnen
00427668 FamB PubMed: Palmer 2018 4-generation consanguineous family, 3 affected (3M), 2 unaffected carrier females, 1 asymptomatic male carrier with XXY karyotype M - - Kurdish - - - - ID see paper; ..., borderline intellectual disability (1/3), mild intellectual disability(2/3); no delayed speech; aggression (3/3); infancy-onset seizures (2/2), generalized convulsive, well controlled on monotherapy (2/2) medication ceased by 7-10y; OFC 2nd-50th centile, weight 50th-75th centile, length 10th-50th centile; long face(3/3); prominent chin(2/3);lean body habitus (3/3) 1 3 Johan den Dunnen
00427669 FamG PubMed: Palmer 2018 3-generation family, 5 affected brothers (5M) M - Australia white - - - - ID see paper; ..., mild-moderate intellectual disability (1/2), moderate intellectual disability(1/2); delayed speech (1/2); self-abusive and obsessive compulsive behaviors(1/2), anxiety and depression (1/2); no seizures; infancy no neurological features; 56y-lower limb spasticity (1/2); OFC 50th-75th centile, weight 25th-50th centile, length 50th centile; long face (2/2), pointed chin (1/2), lean body habitus (2/2), flat midface (1/2) 1 5 Johan den Dunnen
00427670 FamH PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents F - United States white - - - - ID see paper; ..., moderate developmental delay; delayed speech, severe language delay; self-abusive behavior, severe sleep initiation disorder; no seizures; infantile hypotonia, unsteady wide-based gait; MRI brain normal; OFC 3rd centile, weight 50th-75th centile, length 25th-50th centile; down-sloping palpebral fissures, slightly depressed nasal bridge; hyperextensible joints 1 1 Johan den Dunnen
00427671 FamI PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents M - - Europe-N - - - - ID see paper; ..., severe developmental delay; delayed speech (expressive >receptive); no behavioral issues; 3m-onset seizures, 4m-infantile spasms, myoclonic/tonic and absences, refractory to polytherapy; initial EEG focal activity evolving to intermittent multifocal spikes and generalized slowing; infantile hypotonia, cortical visual impairment; 3y-evolving upper limb hypertonia, spasticity; MRI brain periventricular white matter loss with compensatory dilation of lateral and third ventricles; OFC <3rd centile, weight 75th-90th centile, length 75th-90th centile; round face, small pointed chin; feeding difficulties, recurrent aspiration, capillary haemangioma 1 1 Johan den Dunnen
00427672 FamJ PubMed: Palmer 2018 3-generation family, 3 affected (F, 2M), 1 unaffected carrier females F;M - - Hispanic - - - - ID see paper; ..., moderate-severe intellectual disability with developmental regression (1/2), mild intellectual disability (1/2); delayed speech, severe language delay (2/2); no behavioral issues; 6m-onset seizures (1/2), 14y-onset seizures (1/2), focal/generalized and myoclonic (1/2), generalized tonic clonic (1/2), refractory to polytherapy (1/2), controlled on monotherapy levetiracetam (1/2); EEG bi-occipital spikes, generalized spikes, generalized background slowing (1/2), EEG normal (1/2); infantile hypotonia, gait abnormality, cortical visual impairment (1/2), normal examination (1/2); 14y/15y-non progressive upper limb choreiform movements (1/2); MRI brain delayed myelination, global volume loss and attenuated corpus callosum (1/2), normal (1/2); OFC 3rd->98th centile, weight 50th centile, length 50th-95th centile; high arched palate (1/2) 1 3 Johan den Dunnen
00427673 FamK PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents F - United States white - - - - ID see paper; ..., borderline intellectual disability with gross motor delay; delayed speech (expressive and receptive language); emotionally reactive; no seizures; infantile hypotonia; OFC 75th centile, weight75th centile, length 25th centile; congenital diaphragmatic hernia, bilateral hip dysplasia, umbilical hernia, infantile failure to thrive 1 1 Johan den Dunnen
00427674 FamL PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents F - Mexico - - - - - ID see paper; ..., mild-moderate; delayed speech, expressive language; no behavioral issues; no seizures; 4y-not ambulatory, exotropia; MRI brain diffuse cortical hypoplasia and corpus callosum hypoplasia; OFC <3rd centile, weight 50th centile, length <3rd centile; plagiocephaly, broad squared nasal tip, down-sloping palpebral fissures; feeding difficulties, constipation 1 1 Johan den Dunnen
00427675 FamM PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents F - Scotland - - - - - ID see paper; ..., severe intellectual disability; delayed speech, non-verbal; drooling., some self-abusive behavior; 8y-onset seizures, brief absence seizures, not treated with anti-epileptic drugs; infantile hypotonia; MRI brain 2y6m-normal; OFC 75th, weight centile 90th-98th, length centile NR; broad square forehead, deep set eyes, wide philtrum, full lower lip; feeding difficulties in infancy, scoliosis 1 1 Johan den Dunnen
00427676 FamN PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents F - United States white - - - - ID see paper; ..., moderate-severe intellectual disability with developmental regression; delayed speech, non-verbal; no behavioral issues; 13m-onset seizures, myoclonic and complex partial seizures, generalized convulsive seizures, refractory to polytherapy; EEG high-amplitude discharges with excessive generalized slowing and absence of posterior rhythm; mildly increased peripheral tone, brisk patella reflexes and absence of Babinski signs; MRI brain persistently enlarged 3rd ventricle, non-specific subcortical FLAIR/T2 hyperintensity left frontal region; OFC 25th centile, weight 75th centile, length 25th-50th centile 1 1 Johan den Dunnen
00427677 FamO PubMed: Palmer 2018 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - ID see paper; ..., severe intellectual disability; delayed speech, non-verbal; some apathy and social disinhibition; 3y-onset seizures, absences/tonic clonic seizures , refractory to polytherapy and ketogenic diet until lamotrigine added; EEG abnormal background with generalized slowing and temporal spikes spreading to both hemispheres; no infantile hypotonia; progressive spasticity, tics, stereotypies; MRI brain 7y-normal; OFC 2nd centile, weight <1st centile, length <1st centile; round face, down-sloping palpebral fissures, open mouth; persistent feeding difficulties and slow weight gain 1 1 Johan den Dunnen
00427678 FamP PubMed: Palmer 2018 3-generation family, 1 affected (M), unaffected carrier mother M - Germany - - - - - ID see paper; ..., severe intellectual disability; delayed speech, occasional single words; trichotillomania, obsessive behaviours; no seizures; infantile hypotonia; MRI brain 22m-mild ventriculomegaly; OFC >98th centile, weight 50th centile, length 50th centile; long face, prominent chin, straight eyebrows; unilateral inguinal hernia, cryptorchidism, pes planus 1 1 Johan den Dunnen
00427679 Pat248 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected non carrier parents M - China - - - - - epilepsy see paper; 1m-onset seizures, complex partial seizure, 5-6/day; EEG multifocal discharges; MRI brain thin corpus callosum?; remitted to antiepileptic drugs 1 1 Johan den Dunnen
00427680 Pat4 PubMed: He 2021 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - epilepsy see paper 1 1 Johan den Dunnen
00427681 Pat1 PubMed: He 2021 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - epilepsy see paper 1 1 Johan den Dunnen
00427682 Pat2 PubMed: He 2021 2-generation family, 1 affected, unaffected non carrier parents M - China - - - - - epilepsy see paper 1 1 Johan den Dunnen
00427683 Pat3 PubMed: He 2021 2-generation family, 1 affected, unaffected carrier grandmother, mother and younger sister M - China - - - - - epilepsy see paper 1 1 Johan den Dunnen
00427691 A1 PubMed: Palmer 2022 2-generation family, 2 affected half-brothers, asymptomatic carrier mother, half brother severe autism, maternal half sister mild autism M - Netherlands white - - - - NDD see paper; ..., mild intellectual disability (FSIQ 70); no neurological features in infancy; normal hearing; normal vision; delayed speech, speaks in sentences; autism spectrum disorder, attention deficit hyperactivity disorder, hyperkinesis, impulsiveness; 2y-onset seizures, multiple types tonic-clonic, absence and focal; EEG focal discharges; weight 0.7th centile (low weight); OFC 2nd-50th centile; high palate, large central incisors; neonatal feeding difficulties, gastro-esophageal reflux, constipation; restricted extension of elbows 1 2 Johan den Dunnen
00427692 A3 PubMed: Palmer 2022 2-generstion family, 3 affected females, affected father; to date only proband and father tested F - France white - - - - NDD see paper; ..., mild intellectual disability; no neurological features in infancy; normal hearing; normal vision; delayed speech; hyperactivity, inattention, rigidity, anger outbursts, impulsiveness, autism spectrum disorder; no seizures; weight 25-50th centile; height >97th centile (daughter); father; OFC 10th centile; mild synophrys, posteriorly rotated ears; mild feeding difficulties, gastro-esophageal reflux 1 4 Johan den Dunnen
00427693 A3father PubMed: Palmer 2022 father M - France white - - - - NDD see paper; ..., mild intellectual disability; hand tremor, dysmetria; OFC 75th-90th centile; long face, squared chin; scoliosis 1 1 Johan den Dunnen
00427694 A4 PubMed: Palmer 2022 3-generation family, affected (son), mildly affected heterozygous mother M - - white - - - - NDD see paper; ..., age onset adulthood; mild global developmental delay; infancy generalised hypotonia; normal hearing; normal vision; 2y8m-broad based gait; delayed speech, training to use sign language; autism spectrum disorder, repetitive movements; no seizures; MRI brain corpus callosum hypoplasia, no other abnormalities; weight <3rd centile; height 3rd-10th centile; OFC <3rd centile; mild malar flatness, long philtrum, left-sided single palmar crease; mild failure to thrive; pes planus 1 2 Johan den Dunnen
00427695 A4mother PubMed: Palmer 2022 mother F - - white - - - - NDD see paper; ..., mild intellectual disability; autism spectrum disorder; depression 1 1 Johan den Dunnen
00427696 A6 PubMed: Palmer 2022 family, 1 affected M - Turkey - - - - - NDD see paper; ..., moderate intellectual disability (FSIQ 35-40); no neurological features in infancy; normal hearing; normal vision; motor clumsiness, tremor associated with anxiety; delayed speech; autism spectrum disorder, aggressive behaviors; seizures, focal seizures, multifocal seizures; EEG multifocal; MRI brain normal; height 50-75th centile;; no dysmorphic feturres; vesico-ureteric reflux, allergy 1 1 Johan den Dunnen
00427697 A7 PubMed: Palmer 2022 family, 1 affected F - Canada white - - - - NDD see paper; ..., mild intellectual disability; Infantile hypotonia; normal hearing; normal vision; mildly delayed speech; no attention deficit hyperactivity disorder or autism spectrum disorder but described as "distractable"; mild anxiety when in novel situations; no seizures; MRI brain 2y-mild prominence lateral ventricles with septation through right lateral ventricle at base frontal horn; weight <3rd centile (Z=-2.7); height 1-3rd centile (Z=-2.4); OFC <2nd centile (Z=-4); elongated face, narrow face, sloping forehead, prominent nose, high nasal bridge, long philtrum, thin upper lip vermillion, micrognathia, high arched palate, dental crowding, bilateral 5th finger clinodactyly; infancy-vomiting and reflux, required gastrostomy tube until mid-childhood, now eats limited diet due to food sensitivities, no concerns when diet is controlled; mild spina bifida occulta at L5; obstructive sleep apnea; adenotonsillectomy 1 1 Johan den Dunnen
00427698 A10 PubMed: Palmer 2022 3-generation family, 1 affected, heterozygous carrier mother M - - white - - - - NDD see paper; ..., severe intellectual disability; global hypotonia; normal hearing; normal vision; delayed speech, can communicate with hand gestures, only one word.; not formally diagnosed with attention deficit hyperactivity disorder but short attention span; 4m-onset seizures, 6m-absences seizures and infantile spasms, progressing to focal epilepsy; EEG 1y-altered sleep and wake patterns, poorly structured, abundant multifocal spikes, especially in sleep; MRI brain dysgenesis of the corpus callosum (normal length but globally hypoplastic); weight 90th centile; height 90th centile; OFC 75th centile; elongated face, facial hypotonia, open mouth, full cheeks, micrognathia; no gastrointestinal symptoms 1 2 Johan den Dunnen
00427699 A13 PubMed: Palmer 2022 2-generation family, 1 affected, asymptomatic carrier mother M - - Arab 4y - - - NDD see paper; ..., 4y-died; profound global developmental delay; central hypotonia, peripheral spasticity; normal hearing; normal vision; No, but died aged 4 years.; delayed speech; no behavioral issues; 2m-onset seizures, brief generalised tonic clonic seizures; EEG generalized nonspecific cerebral dysfunction without epileptiform discharges; MRI brain severe cerebral/erebellar atrophy, thinning corpus callosum, mild atrophy bilateral thalami, abnormal cerebral white matter signal, mild bifrontal cerebral collections; weight 10th-25th centile; height 10th centile; OFC <2nd centile; dysmorphic feturres; constipation, gastroesophageal reflux, fed via gastrostomy.; two hyperpigmented skin lesions, one on right upper chest around 6x2.5cm, one in right lower back measuring 3x2cm 1 2 Johan den Dunnen
00427700 A16 PubMed: Palmer 2022 family, 1 affected F - - white - - - - NDD see paper; ..., age onset teenage; moderate intellectual disability; no neurological features in infancy; normal hearing; normal vision; brisk reflexes, increased peripheral tone; delayed speech, speaks in short phases, articulation disorder; hyperactivity; severe anxiety (can become catatonic) treated with escitalopram; 13m-onset seizures, atypical tonic clonic seizures associated with fevers; CT brain childhood-normal; weight 50th centile; height 75th centile; OFC 10th centile; broad mouth, short philtrum, mild micrognathia.; no gastrointestinal symptoms 1 1 Johan den Dunnen
00427701 A17 PubMed: Palmer 2022 family, 1 affected M - - white - - - - NDD see paper; ..., age onset early childhood; moderate intellectual disability; Infantile hypotonia; normal hearing; normal vision; tends to walk with slightly stooped posture; delayed speech, speaks in short sentences; hyperactivity, autism spectrum disorder; anxiety, especially with changes in routine; 8m-onset seizures, generalised tonic clonic and focal seizures, some associated with fevers; EEG focal epileptiform activity; MRI brain normal; weight 25th centile; height 10th-25th centile; OFC 10-25th centile; no dysmorphic feturres; very mild constipation; café au lait macule, atopy: eczema, asthma and allergic rhinitis 1 1 Johan den Dunnen
00427702 A18 PubMed: Palmer 2022 family, 1 affected F - United Kingdom (Great Britain) white - - - - NDD see paper; ..., age onset early 30s; moderate intellectual disability; Infantile hypotonia; normal hearing; normal vision; 2y-progressive spastic diplegia; delayed speech; autism spectrum disorder, inattention, impulsive, explosive outbursts; anxiety, obsessive behaviors; no seizures; weight 75th centile; height >97th centile; BMI in obese range; cushingoid features, crowded facial features, relatively small mouth, relatively small hands; on medication (omeprazole) for gastro-esophageal reflux; overweight previously treated with trial of metformin (but no formal diagnosis of diabetes); cushingoid features (but no evidence on hormonal profiling) 1 1 Johan den Dunnen
00427703 A19 PubMed: Palmer 2022 2-generation family, 2 affected brothers, heterozygous carrier mother (47y) M - - white - - - - NDD see paper; ..., moderate-severe intellectual disability; Infantile hypotonia; recurrent otitis media with effusions, treated with ventilation tubes; ataxia; delayed speech; autism spectrum disorder and short attention span (younger brother).; anxiety; focal onset with secondary generalisation; EEG epileptiform activity starting in left mid temporal and spreading throughout left hemisphere; MRI brain complete agenesis corpus callosum; weight 75th centile; height 90th centile; OFC 98th centile; long face, square chin, upslanting palpebral fissures, long fingers; eczema, hyperextensible joints, camptodactyly, pes planus 1 2 Johan den Dunnen
00427704 A19brother PubMed: Palmer 2022 older brother M - - white - - - - NDD see paper; ..., moderate-severe intellectual disability; Infantile hypotonia; bilateral strabismus; ataxia; delayed speech; 13y-epilepsy, focal onset with secondary generalisation; EEG epileptiform activity starting in left mid temporal and spreading throughout left hemisphere; MRI brain complete agenesis corpus callosum; weight >98th centile; height >98th centile; OFC >98th centile; long face, squared jaw, distinct philtrum, tented upper lip; constipation, recurrent abdominal pain and upper GI symptoms 'heart burn'; eczema, early onset of puberty, over weight, hyperextensible joints, camptodactyly, pes planus 1 1 Johan den Dunnen
00427705 A21 PubMed: Palmer 2022 2-generation family, 1 affected, unaffected carrier mother M - Belgium white - - - - NDD see paper; ..., non-verbal learning disability, articulation difficulties, attends mainstream school; Infantile hypotonia; recurrent otitis media; normal vision; unsteady gait, clumsiness; delayed speech, speech articulation difficulties; not diagnosed with autism spectrum disorder, some stereotypical movements, frequent fluttering arm movements, hyperkinesis, short attention span; 9m-onset seizures, generalised tonic clonic seizures and absence seizures with eyelid myoclonia, intractable to polytherapy; EEG normal background with frequent epileptiform activity consistent with generalized/focal (bilateral parietal) epileptic activity, (polyspikes, spike-waves, but no typical 3Hz spike-waves); MRI brain 2y.6y5m/11y-normal; weight 60th centile; height 50th centile; OFC 90th centile; no dysmorphic feturres; gastro-esophageal reflux, cow's milk allergy; joint hypermobility 1 1 Johan den Dunnen
00427706 A22 PubMed: Palmer 2022 2-generation family, 1 affected, unaffected mosaic carrier mother - - Scotland white - - - - NDD see paper; ..., moderate intellectual disability; no neurological features in infancy; normal hearing; normal vision; delayed speech,3y-inconsistent use 3 words; short attention span; 25m-onset seizures, single afebrile focal seizure; EEG central epileptiform activity on left more than right; MRI brain normal; weight 36th centile; height 63rd centile; OFC 71st centile; no dysmorphic feturres; no gastrointestinal symptoms 1 1 Johan den Dunnen
00427707 A24 PubMed: Palmer 2022 3-generation family, 1 affected, asymptomatic carrier mother M - Iraq - - - - - NDD see paper; ..., FFL; Infantile hypotonia; normal hearing; normal vision; gait not spastic but significant genu recurvatum and progressive kyphosis, 18y-no evidence movement disorder or progressive spasticity; delayed speech, 7y-regression lost all words; autism spectrum disorder, attention deficit hyperactivity disorder, hyperkinesis, inattention, impulsiveness, obsessiveness, anger outbursts; anxiety, depression, bipolar disorder; no seizures; EEG childhood normal (2x); MRI brain 8y-11y6m-abnormal, non-specific bilateral small punctate frontal white matter hyperintensities, mildly prominent perivascular spaces, proton spectroscopy non specific, no lactate, 11y6m-corpus callosum slightly bulky; weight <3rd centile (45.6kg at age 18 years); height 50th-75th centile; OFC 10-50th centile; long lean face, long nose, mildly anteverted ears, prominent chin, pre-auricular pit at base of l helix, progressive squaring of chin with age; pica, constipation with fecal loading, poor appetite and limited diet (required iron transfusion); progressive kyphosis of thoracic and lumbar spine. mild anterior wedging of several thoracic bodies, no osteopenia or fractures. leg length discrepancy. fifth finger pip joint camptodactyly, mild pectus excavatum, severe thoracolumbar kyphosis with leg length discrepancy, very thin habitus with long arms and legs. 1 2 Johan den Dunnen
00427708 A28 PubMed: Palmer 2022 family, 1 affected F - - white - - - - NDD see paper; ..., age onset early teens; no intellectual disability (FSIQ 131), specific learning difficulties in reading, numerical operations and mathematics reasoning; no neurological features in infancy; normal hearing; normal vision; no delayed speech; no behavioral issues; obsessive compulsive disorder, depression, anxiety; 17y-treated for possible seizures, later considered possible psychogenic nonepileptic seizures, possible psychogenic non epileptic seizures or focal aware and focal impaired awareness events; sleep-deprived EEG initial rare poorly formed generalized sharp waves; MRI brain possible pituitary hyperplasia/microadenoma; weight 75th-90th centile; height 25-50th centile; significant gastrointestinal dysmotility with symptoms of severe gastroesophageal reflux and constipation, confirmed delayed gastric emptying and small bowel transit time on nuclear medicine studies, required nissen fundoplications, gastrostomy and jejunostomy; severe asthma, persistent rhinosinusitis, endometriosis, hypothyroidism and joint laxity; clinical diagnosis of Ehlers-Danlos syndrome 1 1 Johan den Dunnen
00427709 A29 PubMed: Palmer 2022 2-generation family, 3 affected, boy and brother/maternal uncle with mild learning difficulties, unaffected carrier mother M - Portugal - - - - - NDD see paper; ..., mild intellectual disability, dyscalculia; no neurological features in infancy; normal hearing; normal vision; delayed speech; short attention span, impulsiveness; 1y-onset seizures, initially febrile seizures, focal onset seizures with secondary generalisation, myoclonus; weight <5th centile; height <5th centile; OFC 2nd centile; hypoplastic upper maxilla, dental malocclusion; severe feeding difficulties; neutropenia and anemia; slender feet with 'sandal toe' gap 1 3 Johan den Dunnen
00427710 A31 PubMed: Palmer 2022 2-generation family, 1 affected, unaffected carrier mother M - Portugal - - - - - NDD see paper; ..., moderate intellectual disability (IQ 45); no neurological features in infancy; normal hearing; normal vision; delayed speech; short attention span, difficulties in socialisation; 5y-onset seizures, focal onset seizures; EEG no epileptiform activity; weight 75th centile; height 50th centile; 1 1 Johan den Dunnen
00427711 A40 PubMed: Palmer 2022 family, affected daughter/mother, uncle F - - white - - - - NDD see paper; ..., age onset childhood; moderate intellectual disability; Infantile hypotonia (daughter); normal hearing; strabismus (exotropia), nystagmus, hypermetropia; spasmus nutans (head nodding, ocular oscillations, anomalous head position); delayed speech; autistic traits, attention deficit hyperactivity disorder, hyperkinesis, short attention, challenging behaviors, sleep disturbances; anxiety; 2y-onset seizures, focal seizures, tonic-clonic seizures; EEG 2y-normal; MRI brain 2y-appearances suggestive of isolated congenital anomaly with underdevelopment sulci left frontal region, 4y-persistent widening CSF space overlying tleft frontal region although appearances are less marked on previous MRI; weight 50th; height 25th centile; OFC 75th centile; hypertelorism epicanthal folds full cheeks; constipation (picky eater); asthma, sleep disturbances 1 3 Johan den Dunnen
00427712 A40mother PubMed: Palmer 2022 mother F - - white - - - - NDD see paper; ..., mild intellectual disability; anxiety, depression; no seizures 1 1 Johan den Dunnen
00427713 A41 PubMed: Palmer 2022 2-generation family, 1 affected, unaffected carrier mother F - France white - - - - NDD see paper; ..., age onset early childhood; moderate intellectual disability (IQ 47); no neurological features in infancy; OME (tympanostomy tubes), now normal hearing; requires glasses; delayed speech; hyperactivity, short attention span, attention deficit hyperactivity disorder, autistic features; no seizures; weight 3rd centile; height 3rd centile; OFC 1st centile; down slanting palpebral fissures, telecanthus, small widely spaced teeth, bilateral clinodactyly 5th fingers, slight oedema dorsum of feet; picky eater 1 1 Johan den Dunnen
00427714 A42 PubMed: Palmer 2022 family, 1 affected F - Italy;Portugal - - - - - NDD see paper; ..., moderate intellectual disability; no neurological features in infancy; normal hearing; normal vision; hyperactivity; delayed speech, 6y-mainly echolalia; autism spectrum disorder, inattention, hyperactivity, impulsivity; anxiety; 2y-onset seizures, initial seizures staring with cyanosis and emesis, triggered by motion; EEG generalised slowing without epileptiform activity; MRI brain possible area of cortical dysplasia left temporal lobe; weight 97th centile; height 83rd centile; OFC 40th centile; no dysmorphic feturres; picky eater; severe sleep disorder (requires clonidine and melatonin) 1 1 Johan den Dunnen
00427715 A51 PubMed: Palmer 2022 family, affected male, asymptomatic carrier mother M - - white - - - - NDD see paper; ..., age onset childhood; specific learning disabilities, dyslexia, dyspraxia, dyscalculia, verbal IQ 97, performance IQ 87; no neurological features in infancy; normal hearing; normal vision; delayed speech, mild delay; attention deficit hyperactivity disorder, obsessiveness, anger outbursts, hyperkinesis; anxiety; no seizures; EEG slows generalised slowing without epileptiform activity; MRI brain normal; weight 98th centile; height 98th centile; OFC 98th centile; synophrys, straight eyebrows, high nasal bridge, enophthalmia; no gastrointestinal symptoms 1 2 Johan den Dunnen
00427716 B1 PubMed: Palmer 2022 family, 1 affected F - France white - - - - NDD see paper; ..., mild intellectual disability; ataxia, frequent falls; normal hearing; normal vision; fine more difficulties, unsteady gait; delayed speech, 3y-only 5 words; verbal stereotypes; anxiety; 7y-suspected absence seizures; EEG normal; MRI brain normal; weight 20th centile; height 30th centile; OFC <1st centile (microcephaly); broad nasal root, bulbous nasal tip, high palate; gastroesophageal reflux, difficulties with mastication, eating chunks; normal renal and cardiac ultrasound. eczema; clinodactyly, pectus carinatum, low plantar arches 1 1 Johan den Dunnen
00427717 B3 PubMed: Palmer 2022 family, 1 affected F - - white - - - - NDD see paper; ..., mild intellectual disability; infancy hypotonia; mild hearing loss, tympanostomy tubes; normal vision; delayed speech, first words at 36 months; autism spectrum disorder, 'temper tantrums'; no seizures; MRI brain foreshortening corpus callosum, with small curvilinear pericallosal lipoma; weight 95th centile; height 70th centile; microcephaly; microcephaly; failure to thrive, feeding difficulties; sleep initiation disorder, uses melatonin 1 1 Johan den Dunnen
00427718 B4 PubMed: Palmer 2022 family, 1 affected F - - white - - - - NDD see paper; ..., global developmental delay (not formally tested); Infantile hypotonia; normal hearing; astigmatism, left ptosis; delayed speech; hyperkinesis, short attention span and impulsiveness, anger outbursts; 5y-onset seizures, 6 monthly; MRI brain normal; weight 25-50th centile; height 10th centile; OFC 3rd centile; mild telecanthus, transverse palmar creases; constipation 1 1 Johan den Dunnen
00427719 B5 PubMed: Palmer 2022 family, 1 affected M - France - - - - - NDD see paper; ..., age onset early childhood; severe global developmental delay; Infantile hypotonia; normal hearing; poor vision at low light conditions; wide-based gait; delayed speech, 5y6m-remains non verbal; autism spectrum disorder; social anxiety; no seizures; MRI brain partial agenesis of corpus callosum agenesis (posterior part corpus and splenium) with colpocephaly, mild third ventricle dilation; weight 3rd-10th centile; height 2nd centile; OFC 2nd -50th centile; mildly hypotonic face, mildly hypotonic face, mildly flat face, everted lower lip, anteverted nares; feeding difficulties, constipation, gastroesophageal reflux; scalp psoriasis, polyarthralgia 1 1 Johan den Dunnen
00427720 B6 PubMed: Palmer 2022 2-generation family, affected male, mother mosaic M - Mexico - - - - - NDD see paper; ..., age onset early childhood; moderate intellectual disability; Infantile hypotonia (son); recurrent otitis media requiring placement ventilation tubes (son); proband: bilateral optic nerve hypoplasia, myopia, astigmatism, strabismus (3y/9y-surgery), amblyopia left eye; delayed speech; attention deficit hyperactivity disorder, hyperkinesis, inattention, impulsiveness, obsessiveness, rigidity, anger outbursts; proband sees psychologist; 13y-onset seizures, focal onset frontal lobe hyper motor seizure; EEG (2008)-slowing in occipital region, EEG (2017)-slow background, no epileptiform discharges, EEG (2020)-normal, vEEG (2021)- 8 typical spells of arousing from sleep with altered behavior consistent with focal-onset frontal lobe seizure based on semiology, without clear consistent lateralized electroencephalographic seizure pattern discernible, recurrent frontotemporal epileptiform discharges in sleep with maximal negativity over the left or right anterior temporal region, recurrent - frequent frontal slow wave potentials in sleep; MRI brain partial agenesis and dysplasia of corpus callosum, hypoplastic optic nerves and chiasm; weight 25th - 50th centile; height 25th -50th centile; OFC 50th-98th centile; no dysmorphic feturres; severe constipation with encopresis, unexplained weight loss which resolved (BMI ~50% currently); elevated finger pads, fifth finger clinodactyly 1 2 Johan den Dunnen
00427721 B6mother PubMed: Palmer 2022 mother F - Mexico - - - - - NDD see paper; ..., normal intelligence, mild learning difficulties (finished school in 10th grade); wears glasses for near-sightedness astigmatism; attention deficit hyperactivity disorder, mild obsessiveness, rigidity/anger outbursts in younger years; MRI brain normal; weight90-97th centile; height10-25th centile; OFC 50th-98th centile; pre-diabetes, unilateral aural atresia, myopia, astigmatism (2/2) 1 1 Johan den Dunnen
00427722 B7 PubMed: Palmer 2022 family, 1 affected M - - white - - - - NDD see paper; ..., severe global developmental delay; Infantile hypotonia; normal hearing; bilateral optic atrophy, myopia; delayed speech, 4y-first words; poor sleeping, never cries, autistic traits, eats paper, drops to floor if doesn't want to do something; 8m-febrile seizure, no further seizures; MRI brain 3y-prominent subarachnoid spaces, 8y-hypoplasia corpus callosum, otherwise reported as normal; weight 9th-25th centile; height 2nd centile; OFC 10th centile; young child-myopathic facies, bilateral ptosis, simple ears, widely-spaced teeth; 19y-malar flatness with long face, pointed chin; fussy eater, poor weight gain; poor sleep pattern, not improved with melatonin 1 1 Johan den Dunnen
00427723 B9 PubMed: Palmer 2022 family, 1 affected F - - white - - - - NDD see paper; ..., mild intellectual disability; Infantile hypotonia; normal hearing; requires glasses; delayed speech; hyperkinesis, inattention, impulsiveness, obsessiveness, rigidity, anger outbursts; anxiety (receiving psychotherapy); no seizures; MRI brain normal, 6y-arachnoid cyst; weight 50th centile; height 50-75th; OFC 2nd centile; long face; no gastrointestinal symptoms 1 1 Johan den Dunnen
00427724 B10 PubMed: Palmer 2022 family, 1 affected F - - white - - - - NDD see paper; ..., severe intellectual disability, regression social, motor and speech development noted during development, currently attending special school for children with ID, needs help for all daily procedures such as eating and dressing; no neurological features in infancy; normal hearing; normal vision; stereotypic midline hand movements; delayed speech; hyperkinesis; no seizures; MRI brain 8m-considerable white matter deficiency with enlarged lateral ventricles, thin corpus callosum, delayed myelination; weight <3rd centile, Z score -7.9; height 7th centile, Z score -1.49; OFC <3rd centile, Z score -8.0; microcephaly, short palpebral fissures and prominent lower lip; severe failure to thrive, feeds orally pureed food 1 1 Johan den Dunnen
00427725 B11 PubMed: Palmer 2022 family, 1 affected F - - white - - - - NDD see paper; ..., age onset childhood; moderate intellectual disability, WAIS-IV-NL IQ 49 (verbal<perceptual reasoning), earlier testing SON-R 2.5-7 3y4m-total IQ 57, WPPSI-R 6y10m-total IQ 66 (verbal IQ 61, performing IQ 77); Delayed motor milestones (roll over at 8 mo., sitting at 12 mo., walking at 18 mo.); fluctuating development with acquirement of skills and recurrent periods of regression and re-acquirement of skills; normal hearing; mild hyperopia; delayed speech, speaks in short sentences; Nnt formally diagnosed with autism spectrum disorder, some features of autism spectrum; anxiety (especially in new situations); no seizures; EEG 4y-normal; weight 99th centile; height 10th centile; OFC 70th centile; round face, deep-set eyes, bulbous nose with small nares, partial cutaneous syndactyly 2nd and 3rd toes; constipation; joint hypermobility, recurrent lower urinary tract infections and pyelonephritis, vesicoureteral reflux, asymmetrical kidneys on sonography, primary enuresis nocturia and urge symptoms (worsening under stress situations); multiple allergies, recurrent eczema and dry skin, allergic asthma (mild); brother with attention deficit disorder (requiring treatment) 1 1 Johan den Dunnen
00427726 B13 PubMed: Palmer 2022 family, 1 affected F - United States;Mexico African-American;Mexico - - - - NDD see paper; ..., moderate global developmental delay; cerebral palsy, spastic type, generalised hypotonia; recurrent otitis media; normal vision; delayed speech; no behavioral issues; no seizures; MRI brain agenesis corpus callosum and anterior commissure (complete commissural agenesis), abnormal orientation hippocampi, frequent association; weight <3rd centile, Z score -3.53; height <1st centile, Z score -3.08; OFC <2nd centile, Z score -4.24; microcephaly, positional plagiocephaly; eyes deep-set and wide-spaced, broad bulbous nose; large ears, small jaw, high palate; severe failure to thrive,. gastrostomy feeding, constipation and gastroesophageal reflux, allergic colitis; ichthyosis, fine scaly texture throughout 1 1 Johan den Dunnen
00427727 B14 PubMed: Palmer 2022 family, 1 affected F - - white;Singapore;China - - - - NDD see paper; ..., global developmental delay; central hypotonia, brisk deep tendon reflexes; normal hearing; early poor visual attention with likely delayed visual maturation, ERG/VEP normal, low hypermetropia, normal fundal exam; had stereotypical hand movements (chorea); delayed speech; no behavioral issues; no seizures; MRI brain 1y-small left conatal cyst, ventricles prominent for age with loss of white matter, preserved myelination, pons slightly small relative to midbrain, microcephalic appearance head, abnormalities are non-specific but consistent with a possible neurogenetic disorder; weight <3rd centile, Z score -4.4; height <1st centile, Z score -4.36; OFC <2nd centile, Z score -4.83; no dysmorphic feturres; significant feeding difficulties and severe gastroesophageal reflux 1 1 Johan den Dunnen
00427728 B15 PubMed: Palmer 2022 family, 1 affected F - England;Mexico;France - - - - - NDD see paper; ..., mild-moderate intellectual disability; no neurological features in infancy; normal hearing; normal vision; mild hypotonia; delayed speech, speaking in sentences (0.40 understandable by others); no behavioral issues; no seizures; EEG conducted due to concern for possible seizure activity, no definite epileptic activity detected.; MRI brain normal; weight 2nd centile; height 3rd centile; OFC <3rd centile; posteriorly rotated ears, slightly arched eyebrows, slightly depressed nasal bridge, decreased muscle bulk; failure to thrive 1 1 Johan den Dunnen
00427729 C1 PubMed: Palmer 2022 2-generation family, affected brother/sister, asymptomatic carrier mother M - - Europe;white - - - - DBQD, NDD see paper; ..., mild-moderate intellectual disability; Infantile hypotonia; recurrent otitis media, hearing aides; normal vision; Not described.; delayed speech; features on the autism spectrum and obsessiveness; 3m-onset seizures, mixed semiology focal, febrile and non febrile associated, and atonic (drop) attacks; MRI brain normal; height <0.4th centile; OFC 0.4-3rd centile; consistent with desbuquois dysplasia. almond shaped eyes, short upturned nose; constipation; short stature secondary to desbuquois dysplasia; sister has also cleft palate 1 2 Johan den Dunnen
00427730 C2 PubMed: Palmer 2022 2-generation family, 1 affected, asymptomatic carrier mother M - Lebanon - - - - - NDD see paper; ..., moderate-severe intellectual disability; Infantile hypotonia; normal hearing; severe myopia; mild ataxia, VII cranial nerve palsy; delayed speech, very rudimentary; impulsiveness, anger outbursts; no seizures; EEG normal; MRI brain normal; height 10th centile; OFC 12th centile; long eyelashes, synophrys, thick eyebrows, low set ears, short but normal fifth digit phalanges in hands and feet, second toe longer than hallux left side; no gastrointestinal symptoms; cranial nerve VII palsy 1 1 Johan den Dunnen
00427731 C3 PubMed: Palmer 2022 family, 1 affected M - - Europe;white - - - - NDD see paper; ..., moderate intellectual disability; neonatal hypotonia; bilateral sensorineural hearing loss requiring hearing aids; optic nerve hypoplasia; wide-based gait but not frankly ataxic, tight calves bilaterally, wears AFOs to ankles; delayed speech; autism spectrum disorder, rigidity, anger outbursts; <1y-onset seizures, undefined seizure disorder, diagnosed on basis of abnormal posturing as a neonate with persistently abnormal EEG, MRI brain abnormal, no proven seizures clinically since infancy; EEG 7y-abundant epileptiform discharges over left posterior quadrant, also with slowing noted over the left posterior head region, epileptiform discharges showed significant sleep activation; MRI brain persistent hyperintense signals neurohypophysis, V shaped sella turcica with persistent craniopharyngeal canal, marked medullary expansion skull bones, marginal enlargement right lateral ventricle, persistent and stable prominence bilateral frontal extra-axial spaces and hyperintense signal abnormalities periventricular white matter, asymmetrical (R<L); weight 3rd centile; height 3rd centile; OFC 90th centile; full cheeks, long philtrum, micrognathia, wide nasal bridge, anteverted nares, frontal bossing, exaggerated cupid’s bow, downturned corners of mouth, high anterior hairline, prominent forehead, lagophthalmos, hypertelorism, preauricular pit, posteriorly rotated ears; severe gastrointestinal reflux, fed via a gastrostomy tube; congenital diaphragmatic hernia, bilateral cryptorchidism 1 1 Johan den Dunnen
00427732 D1 PubMed: Palmer 2022 family, 3 affected (half-)brothers, unaffected carrier mother M - England - - - - - NDD see paper; ..., age onset early childhood; moderate-severe intellectual disability; Infantile hypotonia; normal hearing; strabismus; delayed speech (expressive and receptive); short attention, hyperkinesis; anxiety, anger outbursts; 6m-onset seizures, 6m-infantile spasms, progressing to myoclonic and tonic seizures; EEG polyspike and wave; MRI brain possible grey matter heterotopia, dilated perivascular spaces, unmyelinated terminal zones; weight <3rd centile; height just under 1st centile; OFC 75th centile; triangular/trapezoidal face shape, high anterior hairline and prominent forehead, deep-set eyes with straight eyebrows, long/large mouth with thin lips, square, widely spaced teeth; constipation on movicol; hypermobility 1 3 Johan den Dunnen
00427733 D1brother PubMed: Palmer 2022 brother M - England - - - - - NDD see paper; ..., moderate intellectual disability; left alternating esotropia; MRI brain normal; weight <3rd centile; height 50th centile; OFC 50th centile; constipation on lactulose; hypermobility 1 1 Johan den Dunnen
00427734 D1mother PubMed: Palmer 2022 mother F - England - - - - - NDD see paper; ..., mild intellectual disability; hypermobility 1 1 Johan den Dunnen
00427735 D5 PubMed: Palmer 2022 family, 1 affected F - Uzbekistan - - - - - NDD see paper; ..., moderate global developmental delay; Infantile hypotonia; normal hearing; normal vision; delayed speech; autism spectrum disorder (level 2); 24m-one febrile associated seizure, 34m-onset seizures, febrile convulsion (brief generalised tonic clonic); EEG normal; weight 70th centile; height 40th centile; OFC 50th centile; no dysmorphic feturres; no gastrointestinal symptoms 1 1 Johan den Dunnen
00427736 D8 PubMed: Palmer 2022 family, 1 affected M - Canada France;white - - - - NDD see paper; ..., intellectual disability; mother has intellectual disability and epilepsy, 3 maternal uncles and one maternal cousin with epilepsy; normal hearing; normal vision; delayed speech, expressive language delay; 6y-opposition defiant disorder; 6y-onset seizures, 6y-absence seizures, subsequently focal seizures, occasionally focal secondarily generalised seizures; EEG 2 episodes of spike-wave discharges associated with blinking, suggestive of a seizure, generalized nonspecific cerebral dysfunction; weight 50th-75th centile; OFC 75th centile; no dysmorphic feturres; no gastrointestinal symptoms; varus deformity of feed 1 1 Johan den Dunnen
00427737 D11 PubMed: Palmer 2022 family, 1 affected, unaffected carrier mother F - - white - - - - NDD see paper; ..., age onset childhood; moderate-severe intellectual disability; Infantile hypotonia; recurrent otitis media requiring placement ventilation tubes; pseudo strabismus; spasticity and myoclonus; delayed speech, difficulties in articulation; autism spectrum disorder, attention deficit hyperactivity disorder, impulsiveness, obsessiveness, rigidity; anxiety; no seizures; MRI brain 2y-mild prominence fourth ventricle, dilated perivascular space; weight 0.2 centile; height 0.45 centile; no dysmorphic feturres; cyclical vomiting; sleep disorder 1 1 Johan den Dunnen
00427738 E1 PubMed: Palmer 2022 4-generation family, 2 affected (2M), asymptomatic carrier mother M - - white - - - - NDD see paper; ..., age onset late 30s; mild-moderate intellectual disability; no neurological features in infancy; 45y-unilateral mild hearing-loss (mainly high tones); normal vision; delayed speech; autism spectrum disorder, anger outbursts, sexual disinhibition; psychotic disorder (treated with risperidone), sexual disinhibition; no seizures; weight 90-97th centile; height >97th centile; OFC >97th centile; prominent ears with simple helix, prominent nose; no gastrointestinal symptoms; pes planovalgus 1 2 Johan den Dunnen
00427739 E2 PubMed: Palmer 2022 3-generation family, 4 affected (4M)m asymptomatic carrier mother M - - white - - - - NDD see paper; ..., mild-moderate intellectual disability; no neurological features in infancy; normal hearing; normal vision; delayed speech; attention deficit hyperactivity disorder; 10m-onset seizures, intermittent generalised seizures 1-2/per year; height 25th centile; OFC <2nd centile; long face, prominent chin, straight eyebrows, thin lips; no gastrointestinal symptoms; disturbed sleeping patterns waking 2-3x night 1 1 Johan den Dunnen
00427740 E3 PubMed: Palmer 2022 family, 1 affected M - - Asia - - - - NDD see paper; ..., age onset childhood; severe intellectual disability; no neurological features in infancy; normal hearing; normal vision; hypotonia; delayed speech; restlessness, hyperactivity, aggressive outbursts; anxiety, needs someone close by when sleeping; Febrile seizures, first noted before the age of 1. Generalised tonic-clonic seizures until age 7years, focal epilepsy with secondary asymmetric generalisation from right temporal lobe; EEG 6y-while awake sporadic slow episodes left fronto-temporal, during sleep epileptic activity, with isolated sharp waves occurring frontally and prefrontally, short episodes of irregular low voltage spikes left temporal, rhythmic slow wave sequences left temporal, EEG normal on medication; MRI brain bilateral mesial temporal sclerosis, asymmetric, right side more affected; weight 50-75th centile; height 97th centile; OFC 10th centile; no dysmorphic feturres; no gastrointestinal symptoms 1 1 Johan den Dunnen
00427741 A12 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427742 A14 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427743 A15 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427744 A20 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427745 A23 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427746 A25 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427747 A26 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427748 A30 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427749 A33 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427750 A36 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427751 A37 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00427752 A38 PubMed: Palmer 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.