All individuals with variants in gene WDR62

39 entries on 1 page. Showing entries 1 - 39.
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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) 3 1 Yu Sun
00144615 - - - ? - (Germany) - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252) 1 1 IMGAG
00150138 26539891-FamBAB3469 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, severe microcephaly 1 2 Johan den Dunnen
00155311 26805784-FamDEM4154 PubMed: Santos-Cortez 2016, Journal: Santos-Cortez 2016 5-generation family, 7 affecteds (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - DFNB congenital profound hearing impairment, limb malformations, no other abnormalities 1 7 Johan den Dunnen
00269883 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Seizures (HP:0001250) 1 1 IMGAG
00275652 FamMR110Pat1 PubMed: Santos-Cortez 2018 5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ID OFC 38.5cm; IQ 32, severe intellectual disability (HP:0010864); microcephaly, high pain threshold 1 4 Johan den Dunnen
00275653 FamMR110Pat2 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 35cm; IQ 34, severe intellectual disability (HP:0010864); microcephaly 1 1 Johan den Dunnen
00275654 FamMR110Pat3 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 40cm; IQ 30, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275655 FamMR110Pat7 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 42cm; IQ 30, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275666 FamMCP77APat3 PubMed: Santos-Cortez 2018 5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - ID OFC 47cm; IQ 30, severe intellectual disability (HP:0010864); microcephaly 1 4 Johan den Dunnen
00275667 FamMCP77APat5 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 45cm; IQ 30, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275668 FamMCP77APat8 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 46cm; IQ 30, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275669 FamMCP77BPat7 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - ID OFC 49cm; IQ 60, mild intellectual disability (HP:0001256); delayed ambulation, microcephaly 1 1 Johan den Dunnen
00318002 PKMR152 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - ID Moderate ID, speech delay, microcephaly, limbs defect 1 1 Johan den Dunnen
00331728 WDR62-affected male - - M yes Iran Persian 11y? - - - MCPH2 - 1 1 Ehsan Razmara
00361612 14DG0950 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, spasticity, severe microcephaly, lissencephaly 1 1 Johan den Dunnen
00374244 S-2563 PubMed: Ganapathy 2019 - - - India - - - - - ? Features indicative of Joubert syndrome. 1 1 Johan den Dunnen
00374881 S-193 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00387725 M202 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00387768 M8500096 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00387800 M8700010 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 1 Johan den Dunnen
00403859 TF022 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - NDD - 1 1 Johan den Dunnen
00433363 Pat32 PubMed: Duerinckx 2021 patient M no - white - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria 2 1 Johan den Dunnen
00433364 Pat33 PubMed: Duerinckx 2021 patient F no Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth (SD-1), length (SDNA); OFC (SD-4), weigth (SD1), length (SD-0.5); no epilepsy; MRI lissencephaly, pachygyria; birth OFC (SD-2), weigth (SD-1), length (SDNA); OFC (SD-4), weigth (SD1), length (SD-0.5); no epilepsy; MRI lissencephaly, pachygyria 2 1 Johan den Dunnen
00433365 Pat34 PubMed: Duerinckx 2021 patient M yes Turkey - - - - - microcephaly primary microcephaly; OFC (SD-5), weigth (SD-0.5), length (SD-1); no epilepsy; moderate intellectual disability (IQ65 in Turkey); MRI normal; OFC (SD-5), weigth (SD-0.5), length (SD-1); no epilepsy; moderate intellectual disability (IQ65 in Turkey); MRI normal 1 1 Johan den Dunnen
00433366 Pat35 PubMed: Duerinckx 2021 patient M no Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal 1 1 Johan den Dunnen
00433367 Pat36 PubMed: Duerinckx 2021 patient M no Belgium - - - - - microcephaly severe primary microcephaly, hearing deficiency; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal 2 1 Johan den Dunnen
00433368 Pan14;Pat37 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 family, 2 affected sisters F no Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-2), weigth median, length (SD1); OFC (SD-3), weigth (SD+1.5), length (SD3); g4y-eneralized, absences, treatment VPA; moderate intellectual disability; MRI simplified pattern; birth OFC (SD-2), weigth median, length (SD1); OFC (SD-3), weigth (SD+1.5), length (SD3); g4y-eneralized, absences, treatment VPA; moderate intellectual disability; MRI simplified pattern 2 2 Johan den Dunnen
00433369 PatPC12;Pat38 PubMed: Nicolas 2010, PubMed: Duerinckx 2021 patient F yes Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly 1 1 Johan den Dunnen
00433756 MCP14 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - microcephaly microcephaly; muscular dystrophy (one patient), unable to speak clearly, no self-care ability, history of seizure (one patient) 1 1 Johan den Dunnen
00433757 MCP1 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - microcephaly microcephaly; some members alopecia, goiter 1 1 Johan den Dunnen
00433758 MCP28 PubMed: Sajid Hussain 2013 family, 3 affected - - Pakistan - - - - - microcephaly microcephaly; cannot read; no self-care 1 3 Johan den Dunnen
00433759 MCP87 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - microcephaly microcephaly 1 1 Johan den Dunnen
00433760 MCP59 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - microcephaly microcephaly; occasional epileptic shocks, no self-care ability skills, self-injurious, aggressive behavior, history of seizures 1 1 Johan den Dunnen
00433952 MCP129 PubMed: Ahmad 2017 7-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan Baloch - - - - microcephaly microcephaly, OFC SD-5 to -9; not able to speak, profound intellectual disability, no self-care skills, normal height, no epilepsy 1 4 Johan den Dunnen
00433973 Fam1 PubMed: Wang 2017 5-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - microcephaly microcephaly, OFC SD-10 to -9; profpund intellectual disability; epilepsy, strabismus, club foot 1 2 Johan den Dunnen
00433983 Fam17 PubMed: Wang 2017 5-generation family, 5 affected (5F), unaffected heterozygous parents/relatives F yes Pakistan - - - - - microcephaly microcephaly, OFC SD-11 to -5.6; severe intellectual disability; epilepsy, seizure 1 5 Johan den Dunnen
00433992 Fam43 PubMed: Wang 2017 4-generation family, 2 affected (2F), unaffected heterozygous parents/relatives3 F yes Pakistan - - - - - microcephaly microcephaly, OFC SD-14 to -13; moderate intellectual disability; epilepsy 1 2 Johan den Dunnen
00465600 - - - M yes Pakistan - - - - - ID - 1 1 Amina Iftikhar Butt
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