All individuals with variants in gene PHF8

20 entries on 1 page. Showing entries 1 - 20.
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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
00311551 282954 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
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