All individuals with variants in gene CDKL5

679 entries on 7 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000102 - PubMed: Almomani 2011 - - - - - - - - - - - 3 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) 1 1 Yu Sun
00035146 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035147 - - - - - Germany - - - - - ? developmental delay, epilepsy 1 1 Andreas Laner
00035148 - - - - - Germany - - - - - ? severe mental handicap, epilepsy 1 1 Andreas Laner
00035149 - - - - - Germany - - - - - ? therapy-reistent epilepsy, mental handicap 1 1 Andreas Laner
00035150 - - - - - Germany - - - - - ? suspected genetic predisposition, epilepsy at the early infancy, severe developmental delay, therapy-reistent epilepsy, Hypsarrhythmie partiell 1 1 Andreas Laner
00035151 - - - - - Germany - - - - - ? early childhood epilepsies, stereotypies 1 1 Andreas Laner
00035152 - - - - - Germany - - - - - ? epileptic encephalopathy since the first year of life 1 1 Andreas Laner
00035153 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035154 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035155 - - - - - Germany - - - - - ? severe early childhood epilepsy with fits 1 1 Andreas Laner
00035156 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035157 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035158 - - - - - Germany - - - - - ? epileptic encepahlopathy, developmental delay 1 1 Andreas Laner
00035159 - - - - - Germany - - - - - ? severe early childhood epilepsy with fits 1 1 Andreas Laner
00035160 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035161 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035162 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00050639 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? abnormality of prenatal development or birth, oral cleft, seizures, congenital visual impairment, global developmental delay, wide nasal bridge, bilateral microphthalmos, upslanted palpebral fissure 1 1 Johan den Dunnen
00081063 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - EIEE2 Epileptic encephalopathy, early infantile, 2 (OMIM:300672) 1 1 Daniel Trujillano
00081085 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - EIEE2 Epileptic encephalopathy, early infantile, 2 (OMIM:300672) 1 1 Daniel Trujillano
00087273 FamRS315 PubMed: Huopaniemi 2000 family, 2 affected sibs M no Denmark - - - - - RS1 typical X-linked juvenile retinoschisis; one patient had undergone asphyxia during neonatal age, suffers from mild hemiplegia, epilepsy, scar in one hemispheres 1 2 Johan den Dunnen
00114879 19377263-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? 1 1 Lucy Raymond
00114880 19377264-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114881 19377265-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 16 Lucy Raymond
00114882 19377266-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - ? - 1 11 Lucy Raymond
00114883 - - - - - Germany - - - - - ? - 1 1 Birgit Neitzel
00114884 19377267-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 EIEE2 1 8 Lucy Raymond
00114885 19377268-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? 1 1 Lucy Raymond
00114886 19377269-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114887 - - - F - Greece - - - - - Rett syndrome Rett syndrome 1 1 Marianna Kouskou
00114888 19377270-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114889 - - - - - Germany - - - - - ? severe infantile epilepsy; ? 1 1 Birgit Neitzel
00114890 19377271-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00114891 19377272-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00114892 - - - - - Germany - - - - - ? - 1 1 Birgit Neitzel
00114893 19377273-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 2 1 Lucy Raymond
00114894 19377274-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - ? - 1 1 Lucy Raymond
00114895 19377275-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00114896 - - - - - Germany - - - - - ? - 1 1 Birgit Neitzel
00114897 19377276-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114898 - - - - - Germany - - - - - ? - 1 1 Birgit Neitzel
00114899 - - - - - Germany - - - - - ? - 1 1 Birgit Neitzel
00114900 19377277-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114901 19377278-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114902 19377279-Pat? PubMed: Tarpey 2009 unrelated girls F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 EIEE2 1 1 Lucy Raymond
00114903 19377280-Pat? PubMed: Tarpey 2009 unrelated girls F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 EIEE2 1 1 Lucy Raymond
00114904 19377281-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 severe mental retardation, microcephaly, diffuse hypotonia, hyperreflexia, no language, numerous refractory seizures, stereotypical movement hands; 5y-precocious puberty; EIEE2 1 1 Lucy Raymond
00114905 19377282-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - AS absence of speech, severe developmental delay, ataxic gait, hypermotoric behavior, easily excitable personality (uplifted hand-flapping), microcephaly, intractable seizures, brachycephaly, wide mouth, widely dispersed teeth, progressive prognathism; Angelman syndrome 1 1 Lucy Raymond
00114906 19377283-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114907 19377284-Pat? PubMed: Tarpey 2009 family, affected twin girls and an affected brother M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114908 19377285-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114909 19377286-Pat? PubMed: Tarpey 2009 monozygotic twins F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2 1 1 Lucy Raymond
00114910 19377287-Pat? PubMed: Tarpey 2009 monozygotic twins F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2 1 1 Lucy Raymond
00114911 19377288-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 Rett syndrome (variant), infantile seizures, acquired microcephaly, hand apraxia, generalized hypotonia, stereotypic hand motions; EIEE2 1 1 Lucy Raymond
00114912 19377289-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 Rett syndrome, variant, infantile spasms; EIEE2 1 1 Lucy Raymond
00114913 19377290-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 refractory epilepsy; encephalopathy 1 1 Lucy Raymond
00114914 19377291-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - ? - 1 1 Lucy Raymond
00114915 19377292-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - ? in vitro 1 1 Lucy Raymond
00114916 19377293-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 8m-psychomotor regression, coincided with onset seizures; loss of speech, ataxia, progression of refractory seizures; EIEE2 1 1 Lucy Raymond
00114917 19377294-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? 1 1 Lucy Raymond
00114918 19377295-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 EIEE2 3 3 Lucy Raymond
00114919 - - - - - Germany - - - - - ? - 1 1 Birgit Neitzel
00114920 - - - - - Germany - - - - - MRX;IDX most severe retardation, hypotonia, epiliptic and non-epiliptic myoclonia, as well as other seizures; MRX 1 1 Birgit Neitzel
00114921 - - - - - Germany - - - - - ? no clinic; ? 1 1 Birgit Neitzel
00114922 - - - - - Germany - - - - - MRX;IDX epilepsy, hepatomegalie, developmental retardation; MRX 1 1 Birgit Neitzel
00114923 - - - - - Germany - - - - - ? no clinic; ? 1 1 Birgit Neitzel
00114924 19377296-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - ? - 1 5 Lucy Raymond
00114925 19377297-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 2m-onset seizures; mild dysmorphic features incl. high sloping forehead, hypotelorism, epicanthus, broad nasal bridge, high palate, large anteverted ears; profound mental retardation, refractory epilepsy; EIEE2 1 1 Lucy Raymond
00114926 19377298-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 encephalopathy 1 1 Lucy Raymond
00114927 19377299-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome, variant, infantile spasms; Rett syndrome? 1 1 Lucy Raymond
00114928 19377300-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? 1 1 Lucy Raymond
00114929 19377301-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? 1 1 Lucy Raymond
00114930 19377302-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 refractory epilepsy; encephalopathy 1 1 Lucy Raymond
00114931 19377303-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy 1 1 Lucy Raymond
00114932 19377304-Pat? PubMed: Tarpey 2009 family, affected twin girls and an affected brother F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114933 19377305-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? 1 1 Lucy Raymond
00114934 19377306-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - ? - 1 1 Lucy Raymond
00114935 19377307-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 refractory epilepsy; encephalopathy 1 1 Lucy Raymond
00114936 19377308-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - ? - 2 1 Lucy Raymond
00114937 19377309-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy 1 1 Lucy Raymond
00114938 19377310-Pat? PubMed: Tarpey 2009 family, affected twin girls and an affected brother F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114939 19377311-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; EIEE2 1 1 Lucy Raymond
00114940 - - hypotonia, development delay F - Brazil - - - - - EIEE2 Epiletic encephalopathy, Infantile Spasms; CDKL5 related encephalopathy 1 1 Erica Ermel
00114941 19377312-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114942 19377313-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114943 19377314-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - ? - 1 2 Lucy Raymond
00114944 19377315-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 encephalopathy 1 1 Lucy Raymond
00114945 19377316-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy 1 1 Lucy Raymond
00114947 19377318-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 Rett syndrome, atypical; EIEE2 1 1 Lucy Raymond
00114955 19377326-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy 1 1 Lucy Raymond
00114956 19377327-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome, variant, infantile spasms; Rett syndrome? 1 1 Lucy Raymond
00114957 19377328-Pat? PubMed: Tarpey 2009 - F - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114958 19377329-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 refractory epilepsy; encephalopathy 1 1 Lucy Raymond
00114959 19377330-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 epilepsy; EIEE2 1 1 Lucy Raymond
00114960 19377331-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome, variant, infantile spasms; Rett syndrome? 1 1 Lucy Raymond
00114961 19377332-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome, atypical; Rett syndrome? 1 1 Lucy Raymond
00114962 19377333-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Rett syndrome Rett syndrome? 1 1 Lucy Raymond
00114963 19377334-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - EIEE2 early epilepsy; encephalopathy 1 1 Lucy Raymond
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »