Disease #00668 (KLEFS (Kleefstra syndrome (KLEFS)))

Official abbreviation KLEFS
Name Kleefstra syndrome (KLEFS)
OMIM ID -
Inheritance -
Individuals reported having this disease 32
Phenotype entries for this disease 30
Associated with 2 genes EHMT1, MLL3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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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 EHMT1 EHMT1 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 EHMT1 EHMT1 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 EHMT1 EHMT1 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 CACNA1B, EHMT1 CACNA1B, EHMT1 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 EHMT1 EHMT1 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 EHMT1 EHMT1 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 EHMT1 EHMT1 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 EHMT1 EHMT1 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' EHMT1 EHMT1 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 EHMT1 EHMT1 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 EHMT1 EHMT1 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 EHMT1 CACNA1B, EHMT1 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 EHMT1 EHMT1 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 EHMT1 EHMT1 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) EHMT1 EHMT1 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 EHMT1 EHMT1 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 EHMT1 EHMT1 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 EHMT1 EHMT1 1 1 Johan den Dunnen
00092273 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - - - - KLEFS severe IDD with regression, autism, hypotonia, dysmorphic facial features (incl. bilateral megalocornea); neurodegeneration with loss of skills EHMT1 - - 1 Johan den Dunnen
00413392 Pat1 PubMed: Gong 2021 - - - China - - - - - KLEFS - - EHMT1 1 1 Johan den Dunnen
00413393 Pat2 PubMed: Gong 2021 - - - China - - - - - KLEFS - - EHMT1 1 1 Johan den Dunnen
00413394 Pat3 PubMed: Gong 2021 - - - China - - - - - KLEFS - - EHMT1 1 1 Johan den Dunnen
00447993 283478 - - M no Germany - - - - - KLEFS Neurodevelopmental delay, Premature birth, Pulmonic stenosis, Hypomimic face, Delayed speech and language development, Motor delay, Hypotonia, EEG abnormality EHMT1 EHMT1 1 1 Andreas Laner
00453015 KS113;?;Pat1 PubMed: Kleefstra 2012, PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024 2-generation family, 1 affected, unaffected non carrier mother F - - - - - - - KLEFS intellectual disability; childhood hypotonia; microcephaly; short stature; no overweight; brachycephaly; midface hypoplasia; coarse facies; hypertelorism; synophrys; no arched eyebrows; no short nose; no anteverted nostrils; no macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; pointed chin; dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); no seizures - MLL3 1 1 Johan den Dunnen
00453016 KS47 PubMed: Kleefstra 2012 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - KLEFS intellectual disability; childhood hypotonia; no microcephaly; no short stature; no overweight; brachycephaly; midface hypoplasia; coarse facies; hypertelorism; synophrys; no arched eyebrows; short nose; anteverted nostrils; macroglossia (protruding tongue); tented and cupid-bowed upper lip; no thick and everted lower lip; no pointed chin; no dysplastic ear helices; brachydactyly; no cardiac anomaly; no renal anomaly; no behavioral problems; no hearing loss (sensorineural); no seizures - SMARCB1 1 1 Johan den Dunnen
00453017 KS78 PubMed: Kleefstra 2012 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - KLEFS intellectual disability; childhood hypotonia; no microcephaly; short stature; no overweight; brachycephaly; midface hypoplasia; coarse facies; hypertelorism; synophrys; arched eyebrows; short nose; anteverted nostrils; no macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; no pointed chin; no dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); seizures - MBD5 1 1 Johan den Dunnen
00453018 KS220 PubMed: Kleefstra 2012 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - KLEFS intellectual disability; childhood hypotonia; no microcephaly; short stature; no overweight; no brachycephaly; midface hypoplasia; no coarse facies; hypertelorism; no synophrys; no arched eyebrows; short nose; anteverted nostrils; macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; pointed chin; no dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); no seizures - MTMR9, NR1I3, POF1B 3 1 Johan den Dunnen
00453019 Pat1:Pat2 PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - KLEFS moderate intellectual disability; language and motor delay; behavior problems, autistic traits; no childhood hypotonia; epilepsy; thoracal kyphosis; phenylketonuria; recurrent respiratory infections - MLL3, PHF21A 2 1 Johan den Dunnen
00453020 Pat2:pat3 PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - KLEFS imild ntellectual disability; language and motor delay; behavior problems, autism; no childhood hypotonia; no epilepsy; scoliosis; strabismus; cryptorchidism; brain MRI normal - C11orf35, MLL3, UBR5 3 1 Johan den Dunnen
00453021 Pat3;Pat4 PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - KLEFS moderate intellectual disability, IQ50; language and motor delay; behavior problems, PDD-NOS, ADHD; childhood hypotonia; no epilepsy; no scoliosis/kyphosis; bifid uvula; hypospadia; bilateral inguinal hernia; brain MRI normal - MLL3 1 1 Johan den Dunnen
00453022 Pat4;Pat5 PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - KLEFS imild ntellectual disability, IS63; language and motor delay; behavior problems,autism, sleeping disorder; no childhood hypotonia; no epilepsy; no scoliosis/kyphosis; recurrent respiratory infections; dry skin; hoarse voice; brain MRI non-progressive enlarged extracerebral space - MLL3 1 1 Johan den Dunnen
00453023 Pat5;Pat6 PubMed: Koemans 2017, PubMed: Rots 2024, Journal: Rots 2024 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - KLEFS severe intellectual disability; language and motor delay; behavior problems, automutilation; childhood hypotonia; epilepsy; kyphosis; plagiocephaly - MLL3 1 1 Johan den Dunnen
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