MTNDSMountain Data Systems (its virtual domain,
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Demographic data of GCK cases reported here Type # Category Age Sex Presentation - 1 ARPKD 1d F BKE 2 ARPKD 10w M BKE 3 ARPKD 30wga F BKE + OH 4 ARPKD 11d F BKE 5 ARPKD 27wga M BKE in Twin 6 ADPKD 3yM BKE "WT" ADPKD (2) 68yF BKE, C/H RCC (PN) = 8 GCKDm (3) 12yF UTI, AIHA (MTNDS) [equivalent to] 9 JSC 34yF Infertility evaluation 10 Dysplasia 22w M POC, UKE-L aplasia-R 11 Dysplasia 11d M UKE-left [greater than 12 Dysplasia 2d M RD or equal to] 13 Dysplasia 6w M BKE, PBS multicystic 14 Dysplasia 1d M RD, Down Down Syndrome 15 Dysplasia 2d M BKE, lung hypoplasia 16 No dysplasia 9w M BKE 17 Sporadic 8m M RD + BKE > 18 Ischemic 20y M Donor kidney 19 Ischemic 78yF AAA, RAS 20 Drug-Induced 53yF Painless jaundice Type Gross Micro Liver - C+M 30% Normal Fetal lob.
This mutation is most likely related to the girl's hearing loss as modifier roles for MTND5120 and MTND mutations have been reported.