All individuals with variants in gene TESK2

4 entries on 1 page. Showing entries 1 - 4.
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00016137 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F - Germany - - 1 - - polyposis colorectal adenomatous polyposis 1 1 Sukanya Horpaopan
00016295 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis 1 1 Sukanya Horpaopan
00016296 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - CRC familial colorectal cancer 1 1 Sukanya Horpaopan
00410256 ? PubMed: Hanemaaijer 2009 - M - - - - - - - ? Birth weight 2505 g (-2.5 standard deviations, SD), head circumference: 33 cm (-1.3 SD); bilateral coloboma of the iris and fundus and opacification of the inferior nasal part of the cornea; 2 months: right-sided inguinal hernia surgically corrected; one month later hospitalisation because of feeding difficulties and a laryngomalacia was diagnosed by laryngotracheobronchoscopy. 3m3w: length 58.5 cm (-2.3 SD), head circumference 36 cm (-2.5 SD); 80 dB mixed hearing loss of the left ear, 11 pairs of ribs with a hypoplastic first rib (left side more pronounced than right side), a sacral dimple and hypertonia; cerebral magnetic resonance imaging, cardiac and renal ultrasound, metabolic screening (including creatine kinase): normal; intra-uterine infections, especially cytomegalovirus infection: excluded; last examination: 9 months old, despite continuing feeding problems, catch-up growth with a length of 71 cm (-0.9 SD); microcephaly severely progressive - head circumference of 39.2 cm (-5.0 SD) with plagiocephaly; craniosynostosis excluded by X-ray examination; nystagmus with severe visual impairment, axial hypotonia with head lag, hypertonia of limbs and developmental delay were noted during neurological examination; no directive movements or visual pursuit; clinical episodes of suspected convulsions, electroencephalography: no signs of epilepsy 1 1 LOVD
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