All individuals with variants in gene EHMT1

66 entries on 1 page. Showing entries 1 - 66.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00050529 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, abnormality of the iris, hypertelorism, epicanthus, smooth philtrum, irregularly spaced teeth, short neck, single transverse palmar crease, sleep disturbance 1 1 Johan den Dunnen
00052109 - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - - - - KLEFS 9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, no short nose, no anteverted nostrils, carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, malformed ears, no brachydactyly, simian crease, normal genitals, cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, no behavioral problems, no sleep disturbances, no hearing loss, hypotonia, seizures 1 1 Johan den Dunnen
00052111 - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 2-generation family, 1 affected, unaffected non-carrier parents/sibs F no (Netherlands) - - - - - KLEFS 9q subtelomeric deletion syndrome; obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, no coarse facies, no hypertelorism, synophrys, no downslant palpebral fissures, no upslant palpebral fissures, no arched eyebrows, no short nose, no anteverted nostrils, carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, normal ears, brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, behavioral problems, sleep disturbances, no hearing loss, hypotonia, no seizures 1 1 Johan den Dunnen
00052114 - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - - (Netherlands) - - - - - KLEFS 9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, no coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, no pointed chin/prognathism, normal ears, no brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, no depigmentation, no renal cysts, no hydronephrosis, no behavioral problems, no sleep disturbances, no hearing loss, hypotonia, no seizures 1 1 Johan den Dunnen
00052115 - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - - (Netherlands) - - - - - KLEFS 9q subtelomeric deletion syndrome; obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, no carp mouth/tented lip, macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, malformed ears, brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, no depigmentation, no renal cysts, no hydronephrosis, behavioral problems, no sleep disturbances, no hearing loss, hypotonia, seizures 1 1 Johan den Dunnen
00052116 - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - - (Netherlands) - - - - - KLEFS 9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, no carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, no pointed chin/prognathism, malformed ears, brachydactyly, simian crease, abnormal genitals (males), no cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, behavioral problems, no sleep disturbances, no hearing loss, hypotonia, no seizures 1 1 Johan den Dunnen
00052117 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight >>99th, height >>99th, OFC 50th; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, MRI-abnormal myelination; disturbed sleep pattern, self mutilation, hyperphagia; 17m-walk, 5y-speech few words 1 1 Johan den Dunnen
00052118 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight 95th, height 50th, OFC 50th; childhood hypotonia, facial dysmorphism; patent FO (closed spontaneously), no epilepsy, constipation incontinent for urine/faeces, MRI-normal; temper tantrums/tics, rigid and ritualistic behaviour, apathic/depressive behaviour with loss of all interests since age 13 years; walk-30m; speech 3–4 words 1 1 Johan den Dunnen
00052119 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight 90th, height 90th, OFC 16th; childhood hypotonia, facial dysmorphism; no heart defect, First at age 7, generalised with right posterior focal onset, , MRI-mildly enlarged ventricles; poor eye contact, teeth grinding (all improving); walk-2y, jumping/running-7y; speech 3y-5 words, 7y->100 words 1 1 Johan den Dunnen
00052120 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight 90th, height 75th, OFC 90th; childhood hypotonia, facial dysmorphism; pulmonary stenosis, no epilepsy; 8y-glue ear requiring grommets, hypermobile joints, delayed secondary dentition; MRI-normal myelination, normal ventricles, some prominence of sylvian fissures with frontal lobe hypoplasia; trusting and friendly personality; walk-3y, 7y cannot run, unable to ride bicycle; some speech, in general 'signs' 1 1 Johan den Dunnen
00052121 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight 50th, height 84th, OFC <2nd; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, MRI-normal; autism spectrum; walked22m; no speech 1 1 Johan den Dunnen
00052122 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - KLEFS 9q subtelomeric deletion syndrome; OFC <2nd; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, gastro-oesophageal reflux, cryptorchidism (prenatal NT), MRI-corpus callosum hypoplasia; autism spectrum 1 1 Johan den Dunnen
00052123 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - KLEFS 9q subtelomeric deletion syndrome; childhood hypotonia, facial dysmorphism; ventricular septum defect aortic coarctation, no epilepsy, micropenis, cryptorchidism, vesico-ureteral reflux, hearing loss inguinal, peri-umbilical and epigastric hernia, MRI-mildly dilated ventricles, reduction in white matter volume; frustration and tantrums; severely delayed; speech only few words, uses signing and picture cards 1 1 Johan den Dunnen
00052124 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight 50th, height 2-16th; childhood hypotonia, facial dysmorphism; innocent murmur, no epilepsy, MRI-normal; psychiatric symptoms, behavioral features 1 1 Johan den Dunnen
00052125 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight >95th, height >>95th, OFC 50th; childhood hypotonia, facial dysmorphism; Tetralogy of Fallot, no epilepsy, mixed hearing loss, umbilical hernia 1 1 Johan den Dunnen
00052126 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - F - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight 50th, height 2nd, OFC 0.6th; childhood hypotonia, facial dysmorphism; no heart defect, Absences tonic-clonic insults, scoliosis, MRI-small pons, slight central atrophy of both hemispheres (peg examination); disturbed sleep pattern, aggressive outbursts, active and passive periods ; regression, sit-18m, walk-4y; speech few words when young (papa, mama, car) 1 1 Johan den Dunnen
00052127 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight 2nd, height 2nd, OFC 5th; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, tracheo-/bronchomalacia, chronic renal insufficiency, MRI-small brainstem; no walk-7y; speech 7y-3 words 1 1 Johan den Dunnen
00052128 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight 99.6th, height 98th, OFC 16th; childhood hypotonia, facial dysmorphism; innocent murmur, complex partial seizures, inguinal and umbilical hernia, MRI-increased csf spaces over frontal lobes and sylvian fissures compatible with atrophy; hyperactive, aggressive outbursts, temper tantrums, disturbed sleep pattern, autistic traits, hand flapping; delayed, sit-11m, walk2.5y; speech many single words, some phrases, short sentences 1 1 Johan den Dunnen
00052129 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - KLEFS 9q subtelomeric deletion syndrome; weight 50th, height 3rd, OFC 50th; childhood hypotonia, facial dysmorphism; no heart defect, abnormal EEG, no epilepsy, Hearing loss, small ears, small hands, supernumerary nipples, cryptorchidism, MRI-normal; psychoses passiveness; 16y-temporary regression, dementia-like 1 1 Johan den Dunnen
00151555 - - - M - (Germany) - - - - - ? Intellectual disability, mild (HP:0001256); Autistic behavior (HP:0000729); Sensorineural hearing impairment (HP:0000407); Cryptorchidism (HP:0000028) 1 1 IMGAG
00289293 - - - F - - - - - - - ? Abnormality of movement (HP:0100022); Intellectual disability (HP:0001249); Generalized seizures (HP:0002197); Language impairment (HP:0002463); Abnormality of the nervous system (HP:0000707) 1 1 Andreas Laner
00289425 - - - F - - - - - - - ? Microcephaly (HP:0000252); Coarse facial features (HP:0000280); Hypertelorism (HP:0000316); Anteverted nares (HP:0000463); Soft skin (HP:0000977); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Nail dystrophy (HP:0008404); Stereotypical hand wringing (HP:0012171) 1 1 IMGAG
00289432 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Dilated cardiomyopathy (HP:0001644) 1 1 IMGAG
00296848 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Neurodevelopmental delay (HP:0012758); Abnormal facial shape (HP:0001999); Abnormality of the head (HP:0000234); Abnormality of the ocular region (HP:0000284); Hypertelorism (HP:0000316); Abnormality of the outer ear (HP:0000356); Delayed speech and language development (HP:0000750); External ear malformation (HP:0008572) 1 1 Andreas Laner
00307736 UK10K_FINDWGA5411373 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307943 17DG0766 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Intellectual disability, severe, Autism, Motor delay, Absent speech, Abnormal facial shape 1 1 Johan den Dunnen
00311437 263844 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311438 279847 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311439 278970 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311440 270822 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311441 265109 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311442 270428 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311443 270426 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311498 279673 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311499 271868 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311500 272991 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311501 260952 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311502 277920 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00315029 GDB1405 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00315051 GDB1431 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00320166 - - - F - - - - - - - ? Synophrys (HP:0000664); Stereotypy (HP:0000733); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Developmental regression (HP:0002376) 1 1 IMGAG
00324676 169067 - - M ? Germany - - - - - KLEFS1 (+) Abnormality of the nervous system,(+) Behavioral abnormality,(+) Intellectual disability,(+) Seizure,(+) Abnormality of higher mental function,(+) Abnormal nervous system physiology,(+) Abnormal nervous system morphology,(+) Neurodevelopmental abnormality,(+) Diminished ability to concentrate 1 1 Andreas Laner
00325868 - - - M - - - - - - - ? Sensorineural hearing impairment (HP:0000407); Visual impairment (HP:0000505); Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Episodic vomiting (HP:0002572) 1 1 IMGAG
00328552 175109 - - M ? Germany - - - - - KLEFS1 (+) Hearing abnormality,(+) Hearing impairment,(+) Delayed speech and language development,(+) Global developmental delay,(+) Absent speech,(+) Neurological speech impairment,(+) Neurodevelopmental delay ; sister also affected, not tested 1 1 Andreas Laner
00334943 161151 - - M ? Germany - - - - - KLEFS1 Clinical suspicion of Sotos syndrome, tall, overweight, facial dysmorphia (large long head, large forehead, epicanthus, puffy tent-like lips, small teeth with gaps). Rather clumsy large hands, no weakness in drinking as a baby, 1 1 Andreas Laner
00373344 - - - - no China - - - - - KLEFS1 - 1 1 Ke Xu
00373345 - - - F no China - - - - - KLEFS1 - 1 1 Ke Xu
00373346 - - - F no China - - - - - KLEFS1 - 1 1 Ke Xu
00373347 - - - M no - - - - - - KLEFS1 - 1 1 Ke Xu
00373348 - - - F no China - - - - - KLEFS1 - 1 1 Ke Xu
00373349 - - - M no China - - - - - KLEFS1 - 1 1 Ke Xu
00373350 - - - M no China - - - - - KLEFS1 - 1 1 Ke Xu
00411922 199204 - - M ? Turkey - - - - - KLEFS1 Microcephaly, Short attention span, Delayed speech and language development, Global developmental delay, Plagiocephaly 1 1 Andreas Laner
00413392 Pat1 PubMed: Gong 2021 - - - China - - - - - KLEFS - 1 1 Johan den Dunnen
00413393 Pat2 PubMed: Gong 2021 - - - China - - - - - KLEFS - 1 1 Johan den Dunnen
00413394 Pat3 PubMed: Gong 2021 - - - China - - - - - KLEFS - 1 1 Johan den Dunnen
00435335 263280 - - F no Germany - - - - - KLEFS1 Hypotonia, Motor delay,Joint hypermobility,High hypermetropia,Neurodevelopmental delay, Pectus excavatum, Behavioral problems 1 1 Andreas Laner
00447993 283478 - - M no Germany - - - - - KLEFS Neurodevelopmental delay, Premature birth, Pulmonic stenosis, Hypomimic face, Delayed speech and language development, Motor delay, Hypotonia, EEG abnormality 1 1 Andreas Laner
00450457 - - - M - - (not applicable) white - - - - ? HP:0000248, HP:0000290, HP:0000286, HP:0000422, HP:0000194, HP:0010490, HP:0001028 1 1 Marketa Wayhelova
00455160 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - autism - 1 1 Johan den Dunnen
00455161 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - autism - 1 1 Johan den Dunnen
00455162 - PubMed: Kimura 2016 analysis of cohort of schizophrenia and autism spectrum disorder cases - - Japan - - - - - SCZD - 1 5 Johan den Dunnen
00457994 - - - M - - (not applicable) white - - - - NDD HP:0001249, HP:0001513, HP:0000717, HP:0001252, HP:0000750 1 1 Marketa Wayhelova
00458266 - - - M - - (not applicable) white - - - - DD HP:0001263, HP:0000271 1 1 Marketa Wayhelova
00459419 Fam4PatII1 PubMed: Bayam 2024 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Italy Cilento - - - - NDD see paperp; C-section due to failure dilatation uterine cervix; birth 40w, elective C-section, weight 3.52kg, length 52cm, OFC 35cm; weight 8,6kg (-1 SD), length 78cm (+1.5 SD), OFC 42.9cm (-2.69 SD); profound global development delay; bedridden; speech global hyporeactivity; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects 1 1 Johan den Dunnen
00459420 Fam4PatII3 PubMed: Bayam 2024 sister F yes Italy Cilento - - - - NDD see paper; ..., pregnancy unremarkable; birth 40w, elective C-section, weight 3.35kg, length 51cm, OFC 35cm; weight 5kg (-1 SD), length 70cm (+1 SD), OFC 40cm (-1.93 SD); profound global development dela; bedridden; speech no meaningful words; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects 1 1 Johan den Dunnen
Legend   How to query  

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.