All individuals with variants in gene KDM5C

53 entries on 1 page. Showing entries 1 - 53.
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00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - 1 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) 11 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) 11 1 Yu Sun
00016954 19377122-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016955 19377123-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016956 19377124-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016957 19377125-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00017016 Fam8 PubMed: Tzschach 2015 2-generation family, 2 affected brothers, unaffected carrier mother M - - ? - - - - MRX;IDX severe intellectual disability, OFC 90th centile, short stature, strabismus; younger brothe short stature, moderate intellectual disability, OFC 10th centile, cryptorchidism 1 2 Andreas Tzschach
00017030 Fam9 PubMed: Tzschach 2015 2-generation family, affected son/sister/mother F;M - - ? - - - - MRX;IDX moderate intellectual disability, 6y-seizures; sister mild intellectual disability, 47y-short stature (height 148 cm, <3rd centile), microcephaly (OFC 50.5 cm, <3rd centile), obese (weight 87 kg), strabismus, hyperopia, no seizures; mother learning problems, 66y-died 1 3 Andreas Tzschach
00050511 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? cognitive impairment, hypothyroidism 1 2 Johan den Dunnen
00164420 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Pain insensitivity (HP:0007021); Sleep disturbance (HP:0002360) 1 1 IMGAG
00183107 25644381-FamN163 PubMed: Hu 2016 family, 3 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 3 Johan den Dunnen
00183155 25644381-FamD211 PubMed: Hu 2016 family, 1 affected M - - - - - - - MRX;IDX - 1 1 Johan den Dunnen
00183156 25644381-FamD130 PubMed: Hu 2016 family, 1 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 1 Johan den Dunnen
00183335 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Dysplastic corpus callosum (HP:0006989) 1 1 IMGAG
00208613 - - - M no China Eastern Asian 04y - - - AUTSX2 global developmental delay (HP:0001263), autistic behavior (HP:0000729) 1 1 Ke Xu
00296777 APN-34 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier mother M - France - - - - - ID moderate intellectual disability 1 1 Johan den Dunnen
00296778 APN-135 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected carrier mother M - France - - - - - ID moderate intellectual disability 1 1 Johan den Dunnen
00303062 - - - M - - - - - - - ? Mild global developmental delay (HP:0011342); Global developmental delay (HP:0001263); Abnormality of the tongue (HP:0000157); Myopathic facies (HP:0002058); Abnormality of the face (HP:0000271); Short stature (HP:0004322); Hypospadias (HP:0000047) 1 1 Andreas Laner
00307750 UK10K_FINDWGA5410821 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00311446 277981 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311447 273566 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311448 274676 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311449 281153 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311450 260079 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311503 270086 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00311504 270916 PubMed: Faundes 2018 - - - - - - - - - ? - 1 1 Johan den Dunnen
00320173 - - - F - - - - - - - ? Thin upper lip vermilion (HP:0000219); Smooth philtrum (HP:0000319); Intellectual disability (HP:0001249); Seizure (HP:0001250); Global developmental delay (HP:0001263); Atrial septal defect (HP:0001631); Short stature (HP:0004322); Attention deficit hyperactivity disorder (HP:0007018); Short finger (HP:0009381) 1 1 IMGAG
00324416 MRtrio10 PubMed: Vissers 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M - (Netherlands) - - - - - ID see paper; ... 1 1 Johan den Dunnen
00377696 - - - F - - - - - - - ? Thin upper lip vermilion (HP:0000219); Smooth philtrum (HP:0000319); Long eyelashes (HP:0000527); Delayed speech and language development (HP:0000750); Global developmental delay (HP:0001263); Umbilical hernia (HP:0001537); Expressive language delay (HP:0002474); Small, conical teeth (HP:0200141) 1 1 IMGAG
00387856 M8900207 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly, epilepsy 1 3 Johan den Dunnen
00392036 148P - - M no Spain - - - - - MRXSCJ - 1 1 Alejandro Brea-Fernández
00392040 209P - - M no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00405782 PL-3 III:1 Leonardi 2022, submitted Family diagnosed by Dept. of Medical Genetics, Institute of Mother and Child, Poland. Two generation family: asymptomatic mother; three maternal uncles with MRSXCJ M ? Poland - - - - - MRXSCJ Short stature (HP:0004322), Global developmental delay (HP:0001263), Intellectual disability, severe HP:0010864, Bilateral tonic-clonic seizure HP:0002069, Hyperreflexia HP:0001347, Sleep disturbance HP:0002360, Attention deficit hyperactivity disorder HP:0007018, Mood swings HP:0000720, Aggressive behavior HP:0000718, Severe temper tantrums HP:0025162 1 3 Emanuela Leonardi
00405784 PL-3 II:9 Leonardi 2022, submitted Dept. of Medical Genetics, Institute of Mother and Child, Poland F ? Poland - - - - - MRXSCJ Asymptomatic 1 2 Emanuela Leonardi
00405804 PL-3 II:4 Leonardi 2022, submitted Family diagnosed by Dept. of Medical Genetics, Institute of Mother and Child, Poland M ? Poland - - - - - MRXSCJ - 1 1 Emanuela Leonardi
00405805 PD-3827 Leonardi 2022, submitted - M ? Italy - - - - - MRXSCJ Infantile axial hypotonia HP:0009062, Limb hypertonia HP:0002509, Hypothyroidism HP:0000821, Hypermetropia HP:0000540, Exophoria HP:0025313, convergent strabismus HP:0020045, 1 1 Emanuela Leonardi
00405807 NA-UKLB1/DECIPHER264839 Leonardi 2022, submitted Patient diagnosed by Medical Genetic Unit, St George’s University of London, South West Thames Regional Genetics Services M ? England - - - - - MRXSCJ - 1 1 Emanuela Leonardi
00408280 PD-3535 Leonardi 2022, submitted Diagnosed by Genetics of Neurodevelopmental diosrder, University Hospital of Padova, Italy M ? Albania - - - - - MRXSCJ Intellectual disability, mild HP:0001256; Growth delay HP:0001510; Severe temper tantrums HP:0025162; Aggressive behavior HP:0000718; Seizure HP:0001250 1 1 Emanuela Leonardi
00408281 UDNRM1018C.A Leonardi 2022, submitted Diagnosed by University of Campania “Luigi Vanvitelli”; Caserta, Italy M ? Italy - - - - - MRXSCJ - 1 1 Emanuela Leonardi
00408282 PL-1 III1 Leonardi 2022, submitted Diagnosed by Department of Clinical Genetics, Medical University in Bialystok, Bialystok, Poland M ? Poland - - - - - MRXSCJ - 1 1 Emanuela Leonardi
00408285 PD-3597 Leonardi 2022, submitted Diagnosed by Molecular Genetics of Neurodevelopment, Dept. of Women's and Children's Health, University of Padova, Italy F no Italy - - - - - MRXSCJ Autistic behavior HP:0000729; Intellectual disability, moderate HP:0002342; 1 1 Emanuela Leonardi
00408297 NA-LE Leonardi 2022, submitted - M ? Italy - - - - - MRXSCJ Intellectual disability, severe HP:0010864; Attention deficit hyperactivity disorder HP:0007018; Spasticity HP:0001257; Seizure HP:0001250 1 1 Emanuela Leonardi
00408298 PD-3021 Leonardi 2022, submitted Diagnosed by Dept of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy M ? Italy - - - - - MRXSCJ Intellectual disability, severe HP:0010864; Severe temper tantrums HP:0025162; Attention deficit hyperactivity disorder HP:0007018; Aggressive behavior HP:0000718; Sleep disturbance HP:0002360 1 1 Emanuela Leonardi
00408300 PL-2 Leonardi 2022, submitted - M ? Poland - - - - - MRXSCJ - 1 1 Emanuela Leonardi
00408317 LA-MI Leonardi 2022, submitted Diagnosed by Neurophysiopathology Unit, Fondazione IRCCS “Ca' Granda” Ospedale Maggiore Policlinico, Milano, Italy M ? Italy - - - - - MRXSCJ - 1 1 Emanuela Leonardi
00408318 PD-2616 Leonardi 2022, submitted Diagnosed by Dept. of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy F yes Pakistan - - - - - MRXSCJ, Fucosidosis - 1 1 Emanuela Leonardi
00408319 PD-4009 Leonardi 2022, submitted diagnosed by Movement Disorders Unit, Dept. of Neuroscience, University of Padua, Padua, Italy F no (Italy) - - - - - MRXSCJ - 1 1 Emanuela Leonardi
00408320 NA-BN Leonardi 2022, submitted Diagnosed by Medical Genetics Unit, A.O.R.N. "San Pio", Benevento, Italy M no Italy - - - - - MRXSCJ - 1 1 Emanuela Leonardi
00424014 208775 - - F ? Turkey - - - - - MRXSCJ Behavioral abnormality, Short attention span, Delayed speech and language development, Global developmental delay, Broad-based gait, EEG abnormality 1 1 Andreas Laner
00436145 267570 - - F no Portugal - - - - - MRXSCJ Global developmental delay, Delayed speech and language development, Autistic behavior 1 1 Andreas Laner
00440462 PED3044.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440464 PED0055.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
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