All individuals with variants in gene EP300

68 entries on 1 page. Showing entries 1 - 68.
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00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - 3 1 Global Variome, with Curator vacancy
00050411 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? mild intrauterine growth retardation, 3-4 finger syndactyly, microcephaly, proportionate short stature, global developmental delay, specific learning disability, cryptorchidism 1 1 Johan den Dunnen
00050546 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, short stature, clubbing, feeding difficulties in infancy, iga deficiency, microcephaly 1 1 Johan den Dunnen
00050627 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? severe postnatal growth retardation, microcephaly, growth abnormality, oral cleft, global developmental delay, pseudoepiphyses of the metacarpals, marked delay in bone age 1 1 Johan den Dunnen
00058635 - PubMed: Roelfsema 2005 - - - - - - - - - RSTS1 - 1 1 Johan den Dunnen
00058636 - {PMID15706485:Roelfsema 2005} - - - - - - - - - RSTS1 - 1 1 Johan den Dunnen
00058637 - {PMID15706485:Roelfsema 2005} - - - - - - - - - RSTS1 - 1 1 Johan den Dunnen
00058638 - {PMID17220215:Bartholdi 2007} - - - - - - - - - RSTS1 - 1 1 Johan den Dunnen
00058639 - {PMID17299436:Zimmermann 2007} - - - - - - - - - RSTS1 - 1 1 Johan den Dunnen
00058695 - - - M - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058696 - - - M - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058697 - - - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058698 - - - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058699 - {PMID19353645:Foley 2009} - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058700 - {PMID20014264:Bartsch 2010} - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058701 - - - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058702 - - - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058703 - - - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058704 - D.J.M. Peters, personal communication - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058751 - - - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058752 - - - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058753 - - - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058754 - - - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00058767 - {PMID20717166:Tsai 2011} - - - - - - - - - RSTS1 - 1 1 Martine van Belzen
00064625 - - - F no - white - - yes - RSTS2 - 1 1 Elena Dominguez-Garrido
00079120 - - - M no Spain white - - - - RSTS2 - 1 1 Elena Dominguez-Garrido
00079121 - - - M no Spain white - - - - RSTS2 - 1 1 Elena Dominguez-Garrido
00079122 - - - ? no Spain white - - yes - RSTS2 - 1 1 Elena Dominguez-Garrido
00079123 - - - M no Spain white - - - - RSTS2 - 1 1 Elena Dominguez-Garrido
00079124 - - - M no Spain white - - - - RSTS2 - 1 1 Elena Dominguez-Garrido
00079125 - - - F no Spain white - - - - RSTS2 - 1 1 Elena Dominguez-Garrido
00081134 - - - F no Spain white - - yes - RSTS2 - 1 1 Elena Dominguez-Garrido
00144330 - - - F ? - - - - - - ? - 1 1 Stefano Paolacci
00245659 PatE1 PubMed: Menke 2018 - F - United Kingdom (Great Britain) - - - - - DD see paper; …; square face, flat face; no sparse hair (-HP:0008070); prominent forehead (HP:0011220); no thick eyebrows (-HP:0000574); no telecanthi, no epicanthi; upslanted palpebral fissures; short palpebral fissures; no ptosis, no blepharophimosis; no long eyelashes; squint; depressed nasal bridge; no depressed nasal ridge; narrow nasal bridge; no short nose; no short columella; no alae lower inserted than columella; no anteverted nares; no underdeveloped alae nasi; full cheeks; deep philtrum; no everted vermilion upper lip; thin vermilion upper lip; missing teeth; no micrognathia/retrognathia; short set ears; no protruding ears (upper part); no prominent inferior crus of antihelix; no overfolded helix ears; absent earlobe; no clinodactyly fifth finger; sandal gap; cutaneous partial toe syndactyly; overlapping toes; fibular deviation distal halluces; no broad/narrow halluces 1 1 Johan den Dunnen
00245660 PatE2 PubMed: Menke 2018 - F - Netherlands - - - - - DD see paper; …; square face; no sparse hair (-HP:0008070); no prominent forehead (-HP:0011220); no thick eyebrows (-HP:0000574); epicanthi; upslanted palpebral fissures; short palpebral fissures; blepharophimosis; no long eyelashes; no squint; depressed nasal bridge; no depressed nasal ridge; no narrow nasal bridge; no short nose; no short columella; no alae lower inserted than columella; no anteverted nares; no underdeveloped alae nasi; no full cheeks; no philtrum short (s)/long (l)/deep (d); no everted vermilion upper lip; thin vermilion upper lip; no high palate; missing teeth; micrognathia/retrognathia; no short-set/low-set ears; no protruding ears (upper part); no prominent inferior crus of antihelix; no overfolded helix ears; no absent earlobe; no clinodactyly fifth finger; no sandal gap; no cutaneous partial toe syndactyly; no overlapping toes; no fibular deviation distal halluces; no broad/narrow halluces 1 1 Johan den Dunnen
00246626 - - - F - - - - - - - ? Microcephaly (HP:0000252); Iris coloboma (HP:0000612); Motor delay (HP:0001270); Patent ductus arteriosus (HP:0001643) 1 1 IMGAG
00287099 - - - F - - - - - - - ? Seizures (HP:0001250); Global developmental delay (HP:0001263) 1 1 IMGAG
00293134 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 175 Mohammed Faruq
00295939 - - - M - - - - - - - ? Abnormality of movement (HP:0100022); Broad fingertip (HP:0011300); Broad thumb (HP:0011304); Abnormality of central motor function (HP:0011442); Global developmental delay (HP:0001263); Premature birth (HP:0001622); Broad toe (HP:0001837); Abnormal facial shape (HP:0001999); Microcephaly (HP:0000252); Epicanthus (HP:0000286); Tip-toe gait (HP:0030051); Wide nose (HP:0000445); Abnormality of the eyelid (HP:0000492); Misalignment of teeth (HP:0000692); Behavioral abnormality (HP:0000708); Impaired social interactions (HP:0000735); Delayed speech and language development (HP:0000750) 1 1 Andreas Laner
00302953 Pat9 PubMed: Fieremans 2016 - F - - - - - - - ID see paper; ..., mild developmental delay, hearing disability, relative microcephaly, dysmorphism 1 1 Johan den Dunnen
00304906 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00307142 Patient 06 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 3 1 Vanessa Mendonça
00307256 Patient 60 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307257 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 2 1 Vanessa Mendonça
00314998 GDB1372 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00314999 GDB1238 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00315000 18–0842 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00315049 GDB1418 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00327624 - - - M - - - - - - - ? Microcephaly (HP:0000252); Autism (HP:0000717); Intellectual disability (HP:0001249); Absent speech (HP:0001344); Short stature (HP:0004322) 1 1 IMGAG
00331427 12DG0359 PubMed: Maddirevula 2018 isolated case M - - Arab - - - - skeletal dysplasia Congenital microcephaly, Intellectual disability, Short stature, Deeply set eye, Deviated na No 1 1 LOVD
00332250 FamJ PubMed: Astuti 2018 4-generation family, 8 affected (2F, 6M), unaffected parents - - France - - - - - retinal disease see paper; ... 1 8 LOVD
00374727 S-1713 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00381537 183910 - - F no Germany - - - - - MKHK Arachnodactyly, Long toe, Slender toe, Global developmental delay, Seizure, Ataxia, Abnormality of coordination, Hydrocephalus, Abnormality of the pons, Arachnoid cyst, Seizure, Asthma, Joint hypermobility, Muscular hypotonia, Muscular hypotonia of the trunk, Motor delay, Macrocephaly, Chronic constipation, Dental malocclusion, Focal-onset seizure 1 1 Andreas Laner
00391801 208P - - M no Spain - - - - - ID, MKHK, RSTS - 1 1 Alejandro Brea-Fernández
00432237 patient PubMed: Bai 2023 2-generation family, 1 affected, unaffected non carrier parents F - China - - - - - DD see paper; ..., recurrent respiratory tract infection, developmental delay, language delay, mild motor development delay; slightly arched eyebrows, synophridia, long eyelashes, square tip nose, normal columella, prominent two front teeth, normal tooth number; mild hirsutism, post-axial hexadactylia left foot; enlarged cisterna magna enlarged connected with fourth ventricle, enlarged ventricular system; malacia beside posterior horn oleft lateral ventricle; primary low immunoglobulin G and A, normal level immunoglobulin M 1 1 Johan den Dunnen
00435192 253551 - - M no Germany - - - - - RSTS2 Microcephaly, Aggressive behavior, Obsessive-compulsive behavior, Autistic behavior, Low frustration tolerance, Intellectual disability 1 1 Andreas Laner
00440397 PED3301.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00458177 Pat1 PubMed: Pavinato 2024 2-generation family, 1 affected, unaffected non carrier parents F - Switzerland - - - - - ? see paper; ..., prenatal ultrasound normal; born at term, minor facial abnormalities, minor heart defects (corrective surgery); developmental delay, 2y-walk, 5-6y-speech (9y-simple sentences); bilateral mixed hearing loss, attention issues, self-regulation difficulties, normal sleep–wake rhythms; 8y-microcephaly, ECG dilation aortic bulb; intellectual disability; ADHD, motor delay, developmental delay, hearing loss, mild intellectual disability, speech delay, microcephaly, downslanted palpebral fissures, highly arched eyebrows, abnormal earlobe, microretrognathia, dental malposition/malocclusion, tin upper lip vermillion, sall hands, short feet, cardiovascular anomalies, respiratory anomalies, feeding problems, lacrimal duct anomalies, polyhydramnios; round face, broad neck, short neck, deviation of buccal rhyme, high root of nose, choanal atresia;angioma; thin skin; asymmetrical chest; prominent abdomen; clinodactyly; pyelectasia; bronchodysplasia 1 1 Johan den Dunnen
00458178 Pat2 PubMed: Pavinato 2024 2-generation family, 1 affected, unaffected non carrier parents M - Italy - - - - - ? see paper; ..., 32y-deceased (colon carcinoid tumor); anxiety, autism spectrum disorder, epilepsy, hearing loss, severe intellectual disability, , speech delay, microcephaly, highly arched eyebrows, epicanthal folds, short stature, cardiovascular anomalies, respiratory anomalies, feeding problems, gastric reflux, lacrimal duct anomalies, strabismus, cancer; upslanting palpebral fissures, deviation nasal septum, submucous cleft of hard palate; clinodactyly; high cholesterol; hypothyroidism; hyperlipidemia; bilateral inguinal hernias 1 1 Johan den Dunnen
00459408 - - - M - - (not applicable) white - - - - NDD HP:0001249, HP:0000750, HP:0001629, HP:0000252, HP:0001508, HP:0000767 1 1 Marketa Wayhelova
00462306 051-008-TNK PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - ? 19gw-intrauterine growth restriction, broad halluces, sacral spina bifida, postaxial polydacytly left foot 1 1 Johan den Dunnen
00464136 - PubMed: Ismagilova 2025, Journal: Ismagilova 2025 patient - - Russia - - - - - RSTS microcephaly, (dismorfic facial features?), broad thumbs, duplicated halluces, moderate intellectual disability, postnatal growth retardation; cryptorchidism 1 1 Johan den Dunnen
00464137 - PubMed: Ismagilova 2025, Journal: Ismagilova 2025 patient - - Russia - - - - - RSTS microcephaly, convex nasal ridge, highly arched palate, broad thumbs/halluces, mild intellectual disability, postnatal growth retardation; external genital hypoplasia 1 1 Johan den Dunnen
00464138 - PubMed: Ismagilova 2025, Journal: Ismagilova 2025 patient - - Russia - - - - - RSTS microcephaly, highly arched eyebrow, broad thumbs/halluces, delayed development, postnatal growth retardation; maternal pre-eclampsia; broad nasal tip, epicanthal folds 1 1 Johan den Dunnen
00464139 - PubMed: Ismagilova 2025, Journal: Ismagilova 2025 patient - - Russia - - - - - RSTS Rubinstein-Taybi syndrome 1 1 Johan den Dunnen
00464145 - PubMed: Ismagilova 2025, Journal: Ismagilova 2025 patient - - Russia - - - - - RSTS microcephaly, convex nasal ridge, columella below alae nasi, highly arched palate, broad thumbs/halluces, intellectual disability; maternal pre-eclampsia, hypertrichosis; strabismus, thin lips, enamel hypoplasia, carious teeth, ventricular noncompaction 1 1 Johan den Dunnen
00466033 Pat1 Journal: Wang 2025 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - RSTS see paper; ..., growth retardation; birth-35w, weight 3.0 kg, hypoxia. asphyxia 1 1 Johan den Dunnen
00466034 Pat2 Journal: Wang 2025 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - RSTS see paper; ..., growth retardation; birth-35w, weight 2.13 kg; preterm low birth weight; no intrauterine growth restriction noted 1 1 Johan den Dunnen
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