All individuals with variants in gene PHF8

47 entries on 1 page. Showing entries 1 - 47.
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00000029 - PubMed: Almomani 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
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) 3 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) 1 1 Yu Sun
00050533 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, attention deficit hyperactivity disorder, delayed speech and language development, walking on tiptoes, repetitive compulsive behavior, global developmental delay, hypermetropia, brisk lower extremity reflexes 1 1 Johan den Dunnen
00172728 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172729 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172730 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 4 Lucy Raymond
00183138 25644381-FamP177 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00296783 APN-105 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected PHF8 carrier mother M - France - - - - - ID mild intellectual disability 1 1 Johan den Dunnen
00311489 274736 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311490 270216 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311491 270217 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311492 260452 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311493 274085 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00387903 M9100013 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes - Azeri - - - - ID syndromic intellectual disability, no microcephaly 1 3 Johan den Dunnen
00403236 - PubMed: Maia-2020 - M yes - - - - - - retinal disease sensorineural hearing loss (HP:0000407), retinitis pigmentosa (HP:0000510), vestibular impairment, musculoskeletal complaints, see paper… 1 1 LOVD
00419891 Pat18 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD birth 41w0d; no IUGR; no failure to thrive; no hypotonia; global developmental delay; no gross motor delay; no fine motor delay; 15m-walk; speech delay, 12m-first words; mild intellectual disability, verbal IQ59, performance IQ73, unreliable test result because of behavioral issues; behavioral problems; hyperactivity/ADHD; no anxiety; aggression; no microcephaly; no seizures; no myopia; no strabismus; normal hearing; high and small palate; two café-au-lait maculae; large central tooth upper jaw; other primary teeth still in situ; plump hands with small 5th fingers; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; no genitourinary findings 1 1 Johan den Dunnen
00433442 252731 - - M no Germany - - - - - MRXSSD Neurodevelopmental delay, Focal-onset seizure, Obesity, Polyphagia 1 1 Andreas Laner
00440472 PED3454.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00469201 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00472090 Pat1 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., no microcephaly; hypotelosism; no low set ears; ear posteriror rotation; no broad nasal tip; no long face; cleft lip, cleft palate; no high-arched palate; retrognathia; autism spectrum disorder; developmental dealy; speech delay; mild intellectual disability; no neonatal hypotonia; psychomotor developmental delay; gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472091 Pat2 PubMed: Sobering 2022 3-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., macrocephaly; hypertelosism; low set ears; no ear posteriror rotation; broad nasal tip; long face; no cleft lip, no cleft palate; high-arched palate; no retrognathia; autism spectrum disorder, aggressive; developmental dealy; speech delay; severe intellectual disability; neonatal hypotonia; psychomotor developmental delay; gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472092 Pat3 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., microcephaly; no hypertelosism; low set ears; ear posteriror rotation; no broad nasal tip; long face; no cleft lip, no cleft palate; high-arched palate; retrognathia; attention deficit hyperactivity disorder, aggressive, anxious; developmental dealy; speech delay; moderate intellectual disability; neonatal hypotonia; psychomotor developmental delay; gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472093 Pat4 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., microcephaly; no hypertelosism; low set ears; ear posteriror rotation; no broad nasal tip; long face; no cleft lip, no cleft palate; no high-arched palate; retrognathia; autism spectrum disorder, attention deficit hyperactivity disorder , aggressive; developmental dealy; speech delay; moderate intellectual disability; neonatal hypotonia; gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472094 Pat5 PubMed: Sobering 2022 3-generation family, 1 affected, unaffected carrier mother/sister M - United States African;Caribbean - - - - NDD see paper; ..., no microcephaly; hypertelosism; low set ears; ear posteriror rotation; broad nasal tip; long face; no cleft lip, no cleft palate; high-arched palate; retrognathia; autism spectrum disorder, attention deficit hyperactivity disorder; developmental dealy; speech delay; moderate intellectual disability; no neonatal hypotonia; gross motor delay; fine motor delay; seizures 1 1 Johan den Dunnen
00472095 Pat6 PubMed: Sobering 2022 3-generation family, 2 affected borthers/maternal uncle, unaffected carrier mother/sister M - United States Europe - - - - NDD see paper; ..., no microcephaly; hypertelosism; no low set ears; no ear posteriror rotation; no broad nasal tip; no long face; no cleft lip, no cleft palate; no high-arched palate; no retrognathia; attention deficit hyperactivity disorder , aggressive; developmental dealy; speech delay; mild intellectual disability; no neonatal hypotonia; no gross motor delay; fine motor delay; seizures 1 3 Johan den Dunnen
00472096 Pat7 PubMed: Sobering 2022 older brother M - United States Europe - - - - NDD see paper; ..., no microcephaly; hypertelosism; no low set ears; no ear posteriror rotation; no broad nasal tip; no long face; no cleft lip, no cleft palate; no high-arched palate; no retrognathia; attention deficit hyperactivity disorder, , anxious; developmental dealy; speech delay; no intellectual disability; no neonatal hypotonia; no gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472097 Pat8 PubMed: Sobering 2022 maternal uncle M - United States Europe - - - - NDD see paper; ..., no microcephaly; hypertelosism; no low set ears; no ear posteriror rotation; no broad nasal tip; long face; no cleft lip, no cleft palate; no high-arched palate; retrognathia; attention deficit hyperactivity disorder , aggressive; developmental dealy; speech delay; mild intellectual disability; no neonatal hypotonia; no neonatal hypotonia; no gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472098 Pat9 PubMed: Sobering 2022 3-generation family, affected monozygotic twins, unaffected carrier mother M - Morocco - - - - - NDD see paper; ..., microcephaly; hypertelosism; no low set ears; no ear posteriror rotation; no broad nasal tip; long face; no cleft lip, no cleft palate; no high-arched palate; retrognathia; autism spectrum disorder; developmental dealy; speech delay; severe intellectual disability; no neonatal hypotonia; no neonatal hypotonia; gross motor delay; fine motor delay; seizures 1 2 Johan den Dunnen
00472099 Pat10 PubMed: Sobering 2022 twin M - Morocco - - - - - NDD see paper; ..., microcephaly; hypertelosism; no low set ears; no ear posteriror rotation; no broad nasal tip; long face; no cleft lip, no cleft palate; no high-arched palate; retrognathia; autism spectrum disorder; developmental dealy; speech delay; severe intellectual disability; no neonatal hypotonia; no neonatal hypotonia; gross motor delay; fine motor delay; seizures 1 1 Johan den Dunnen
00472100 Pat11 PubMed: Sobering 2022 3-generation family, 1 affected, unaffected carrier mother M - Morocco - - - - - NDD see paper; ..., microcephaly; no hypertelosism; no low set ears; no ear posteriror rotation; no broad nasal tip; long face; no cleft lip, no cleft palate; no high-arched palate; retrognathia; normal behavior; developmental dealy; speech delay; severe intellectual disability; no neonatal hypotonia; no neonatal hypotonia; gross motor delay; no fine motor delay; seizures 1 1 Johan den Dunnen
00472101 Pat12 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no microcephaly; hypertelosism; low set ears; ear posteriror rotation; broad nasal tip; long face; no cleft lip, no cleft palate; no high-arched palate; no retrognathia; normal behavior; developmental dealy; speech delay; mild intellectual disability; no neonatal hypotonia; no neonatal hypotonia; gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472102 Pat13 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., microcephaly; no hypertelosism; no low set ears; ear posteriror rotation; no broad nasal tip; no long face; no cleft lip, no cleft palate; no high-arched palate; retrognathia; attention deficit hyperactivity disorder; developmental dealy; speech delay; moderate intellectual disability; no neonatal hypotonia; no neonatal hypotonia; gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472103 Pat14 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., no microcephaly; no hypertelosism; no low set ears; no ear posteriror rotation; broad nasal tip; no long face; no cleft lip, no cleft palate; no high-arched palate; retrognathia; autism spectrum disorder; developmental dealy; speech delay; mild intellectual disability; neonatal hypotonia; no neonatal hypotonia; gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472104 Pat15 PubMed: Sobering 2022 3-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no microcephaly; hypertelosism; no low set ears; no ear posteriror rotation; broad nasal tip; long face; cleft lip, cleft palate; high-arched palate; retrognathia; normal behavior; developmental dealy; speech delay; no intellectual disability; no neonatal hypotonia; no gross motor delay; no fine motor delay; no seizures 1 1 Johan den Dunnen
00472105 Pat16 PubMed: Sobering 2022 3-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., macrocephaly; hypertelosism; no low set ears; no ear posteriror rotation; broad nasal tip; long face; cleft lip, cleft palate; high-arched palate; no retrognathia; normal behavior; developmental dealy; speech delay; severe intellectual disability; neonatal hypotonia; no neonatal hypotonia; gross motor delay; fine motor delay; no seizures 1 1 Johan den Dunnen
00472106 Pat17 PubMed: Sobering 2022 3-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., intellectual disability 1 1 Johan den Dunnen
00472107 Pat18 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., intellectual disability 1 1 Johan den Dunnen
00472108 Pat19 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., intellectual disability 1 1 Johan den Dunnen
00472109 Pat20 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected carrier mother M - - Europe;Kenya - - - - NDD see paper; ..., intellectual disability 1 1 Johan den Dunnen
00472110 Pat21 PubMed: Sobering 2022 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - NDD see paper; ..., intellectual disability 1 1 Johan den Dunnen
00472111 ID0707 PubMed: Ibarluzea 2020 2-generation family, 1 affected, unaffected carrier mother M - Spain - - - - - ID see paper; ... 1 1 Johan den Dunnen
00472128 patient PubMed: Abidi 2007 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ID see paper; ..., intellectual disability , cleft lip, cleft palate 1 1 Johan den Dunnen
00472129 CMS6748 PubMed: Abidi 2007 - M - United States - - - - - ID - 1 1 Johan den Dunnen
00472130 Fam2PatIII2 PubMed: Laumonnier 2005 2-generation family, affected son/3 maternal uncles (deceased), unaffected carrier mother/grandmother M - France - - - - - ID see paper; ..., intellectual disability, bilateral cleft lip, cleft palate; long hands, flat feet, long, thin fingers, thin toes 1 4 Johan den Dunnen
00472131 FamN42PatIV3 PubMed: Siderius 1999, PubMed: Laumonnier 2005 4-generation family, 3 affected (3M), 4 unaffected carrier femals M - France - - - - - ID see paper; ..., intellectual disability, cleft lip, cleft palate, long face, broad nasal tip; large hands pre-axial polydactyly cryptorchidism, thoracal scoliosis 1 3 Johan den Dunnen
00472132 - PubMed: Koivisto 2007 4-generation family, 4 affected (4M), 1 unaffected carrier female M - Finland - - - - - ID see paper; ..., mild intellectual disability, cleft lip, cleft palate; backwards sloping forehead, prominent supraorbital ridge, upwards slanted palpebral fissures, pes planus, short first toes, thoracal kyphosis 1 4 Johan den Dunnen
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