All individuals with variants in gene CASK

64 entries on 1 page. Showing entries 1 - 64.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 4 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 7 1 Yu Sun
00050379 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, developmental regression, global developmental delay, hearing impairment, diabetes mellitus, aplasia/hypoplasia of the cerebellum, abnormality of the brainstem, delayed cns myelination 1 1 Johan den Dunnen
00050435 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? oligohydramnios, talipes equinovarus, generalized tonic seizures, hypertonia, microcephaly, progressive congenital scoliosis, abnormality of earlobe 1 1 Johan den Dunnen
00050502 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, microcephaly, pulmonic stenosis, dandy-walker malformation, narrow palate, deeply set eye, sensorineural hearing impairment, 2-3 toe syndactyly, clinodactyly of the 5th finger 1 1 Johan den Dunnen
00050524 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - 0 Decipher - ? pontocerebellar hypoplasia, progressive microcephaly, cortical visual impairment, severe global developmental delay 1 1 Johan den Dunnen
00050587 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? severe short stature, global developmental delay, specific learning disability, abnormal facial shape, generalized hypotonia due to defect at the neuromuscular junction, attention deficit hyperactivity disorder, aggressive behavior, myopia, increased body weight, cafe-au-lait spot, fifth toe clinodactyly, joint hypermobility, large for gestational age, autism 1 1 Johan den Dunnen
00050644 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, global developmental delay, abnormal facial shape 1 1 Johan den Dunnen
00050678 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, intellectual disability, global developmental delay, large for gestational age, epicanthus, long philtrum, depressed nasal bridge, hypotelorism, wide intermamillary distance, low-set ears 1 1 Johan den Dunnen
00057257 - - - F - - - - 0 - - MICPCH Microcephaly HP:0000252 1 1 Birgit Sikkema-Raddatz
00111393 S_008 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - 0 - - MICPCH Microcephaly, MRI: cerebellopontine hypoplasia, moderate to severe ID, muscular hypertonia, hearing loss 1 1 Bernt Popp
00111690 19377234-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00111691 19377235-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00111692 19377236-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00144508 - - - F - (Germany) - - 0 - - ? Delayed speech and language development (HP:0000750); Microcephaly (HP:0000252) 1 1 IMGAG
00163761 UZL6032 - - F - ? (unknown) European - 0 - - MICPCH - 1 1 Francesca Cristofoli
00163762 UZL6596 - - F - - Caucasian - 0 - - - - 1 1 Francesca Cristofoli
00163763 UZL4581 - - F - - European - 0 - - MICPCH - 1 1 Francesca Cristofoli
00163765 UZL7743 - - F - - European - 0 - - ID postnatal microcephaly (HP:0005484) delayed psychomotor development (HP:0001263) nystagmus (HP:0000639) hyperopia (HP:0000540) esotropia (HP:0000565) 1 1 Francesca Cristofoli
00172972 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 24 Lucy Raymond
00183658 27620904-Pat03 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - ID - 1 1 Johan den Dunnen
00213087 - - - F - - - - 0 - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00275940 - - - M - - - 12y - - - MICPCH, mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) pontocerebellar hypoplasia 1 1 Enza Maria Valente
00275942 CCM031 - - F - - - 01y06m - - - MICPCH - 1 1 Enza Maria Valente
00275943 CCM041 - - F - Romania - - - - - MICPCH - 1 1 Enza Maria Valente
00275944 CCM043 - - F - Italy - 05y07m - - - MICPCH - 1 1 Enza Maria Valente
00275945 CCM086 - - F - - - 15y06m - - - MICPCH - 1 1 Enza Maria Valente
00275946 CCM115 - - F - Italy - 26y04m - - - MICPCH - 1 1 Enza Maria Valente
00275947 CCM157 - - F - Italy - 05y - - - MICPCH - 1 1 Enza Maria Valente
00275948 CCM195 - - M - Italy - 01y09m - - - MICPCH - 1 1 Enza Maria Valente
00275949 CCM239 - - F - - - 03y06m - - - MICPCH - 1 1 Enza Maria Valente
00275950 CCM395 - - M - Italy - 04y02m - - - MICPCH - 1 1 Enza Maria Valente
00275951 CCM249 - - F - Croatia (Hrvatska) - 00y04m - - - MICPCH - 1 1 Enza Maria Valente
00275952 CCM333 - - F - Italy - 04y02m - - - MICPCH - 1 1 Enza Maria Valente
00275953 CCM411 - - F - Morocco - 03y04m - - - MICPCH - 1 1 Enza Maria Valente
00275954 CCM529 - - F - Italy - 03y09m - - - MICPCH - 1 1 Enza Maria Valente
00275955 CCM530 - - F - Italy - 03y06m - - - MICPCH - 1 1 Enza Maria Valente
00275956 CCM433 - - F - Italy - 00y08m - - - MICPCH - 1 1 Enza Maria Valente
00275957 CCM457 - - F - Italy - 05y04m - - - MICPCH - 1 1 Enza Maria Valente
00275958 CCM509 - - F - Israel - 07y - - - MICPCH - 1 1 Enza Maria Valente
00275959 CCM510 - - M - Albania - 03y04m - - - MICPCH - 1 1 Enza Maria Valente
00275960 CCM515 - - F - Italy - 05y02m - - - MICPCH - 1 1 Enza Maria Valente
00275961 CCM525 - - F - Serbia - 01y09m - - - MICPCH - 1 1 Enza Maria Valente
00275962 CCM532 - - F - - - - - - - MICPCH - 1 1 Enza Maria Valente
00275963 CCM531 - - F - Italy - 07y05m - - - MICPCH - 1 1 Enza Maria Valente
00275964 CCM533 - - F - Italy - 04y - - - MICPCH - 1 1 Enza Maria Valente
00275965 CCM568 - - F - Italy - 06y - - - MICPCH - 1 1 Enza Maria Valente
00295059 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295060 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00295061 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00302680 - - - F - - - - 0 - - ? Global developmental delay (HP:0001263); Abnormality of the cerebellum (HP:0001317); Hearing impairment (HP:0000365); Aplasia/Hypoplasia of the corpus callosum (HP:0007370); Microcephaly (HP:0000252) 1 1 Andreas Laner
00302975 Pat20 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown 1 1 Johan den Dunnen
00326801 - - - M no China - - - - - EIG Epilepsy, intellectual disability and cerebral palsy of spasticity 1 2 Tao Cai
00326807 - - - - - China - - - - - epilepsy microcephaly, epilepsy, developmental delay, delayed speech 1 3 Tao Cai
00326808 - - - - no (China) - - - - - epilepsy epilepsy, ID, ASD 1 2 Tao Cai
00326809 - - - - - China - - - - - epilepsy epilepsy 1 1 Tao Cai
00326810 - - - - - China - - - - - epilepsy Epilepsy and ID 1 1 Tao Cai
00326811 - - - - - - - - - - - epilepsy - 1 1 Tao Cai
00326812 - - - - - - - - 0 - - epilepsy - 1 1 Tao Cai
00326813 - - - - - China - - - - - epilepsy - 1 1 Tao Cai
00374179 S-2936 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Developmental delay, microcephaly and Dandy-Walker malformations 1 1 Johan den Dunnen
00374190 S-2989 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Mild global developmental delay, febrile illness, dyskinesia, dystonia and regression of milestones 1 1 Johan den Dunnen
00387872 M9000047 PubMed: Hu 2019 family, 4 affected individuals, first cousin parents - yes - Arab - 0 - - ID non-syndromic intellectual disability, no microcephaly 1 4 Johan den Dunnen
00387890 M9000120 PubMed: Hu 2019 family, 2 affected individuals - - Iran Persia - 0 - - ID syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
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