All individuals with variants in gene DDC

27 entries on 1 page. Showing entries 1 - 27.
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00288196 Pat6 PubMed: Lee 2019 - - - United States - - 0 - - ? abnormal facial shape, absent speech, astigmatism, bowel incontinence, cerebral palsy, developmental delay, dystonia, flexion contracture, hypotonia, inability to walk, micrognathia, myopia, obstructive sleep apnea, osteopenia, poor head control, posteriorly rotated ears, seizures, skin rash, talipes equinovarus, tapered finger, urinary incontinence 1 1 Johan den Dunnen
00294471 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 73 Mohammed Faruq
00294472 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 81 Mohammed Faruq
00294473 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00302580 P1 PubMed: Wen 2020 - F - China - - 0 - - AADCD disease moderate severity; 3m-head control; turn over at 13 m; now could sit with support and say a few simple words; EEG normal; MRI brain normal 1 1 Johan den Dunnen
00302581 P2 PubMed: Wen 2020 - F - China - - 0 - - AADCD disease moderate severity; 15m-head control; turn over at 20 m; now could sit with assistance and grasp small things in a few minutes; EEG delta slow wave; MRI brain increased extracerebral space 2 1 Johan den Dunnen
00302582 P3 PubMed: Wen 2020 - F - China - - 0 - - AADCD disease moderate severity; 10m-head control; 19m-turn over; 19m-sit; now babble; EEG sharp slow wave ; MRI brain delayed myelination 2 1 Johan den Dunnen
00302583 P4 PubMed: Wen 2020 - F - China - - 0 - - AADCD disease moderate severity; 12m-head control; 14m-turn over; 18m-sit; 8m-babble; 27m-walk; EEG normal; MRI brain increased extracerebral space 2 1 Johan den Dunnen
00302584 P5 PubMed: Wen 2020 - F - China - - 0 - - AADCD severe, bedridden 1 1 Johan den Dunnen
00302585 P6 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain delayed myelination 1 1 Johan den Dunnen
00302586 P7 PubMed: Wen 2020 - F - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain normal 1 1 Johan den Dunnen
00302587 P8 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain normal 1 1 Johan den Dunnen
00302588 P9 PubMed: Wen 2020 - F - China - - 0 - - AADCD severe, bedridden 2 1 Johan den Dunnen
00302589 P10 PubMed: Wen 2020 - F - China - - 0 - - AADCD severe, bedridden; EEG normal 2 1 Johan den Dunnen
00302590 P11 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden; MRI brain delayed myelination 2 1 Johan den Dunnen
00302591 P12 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain delayed myelination 2 1 Johan den Dunnen
00302592 P13 PubMed: Wen 2020 - F - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain increased extracerebral space 2 1 Johan den Dunnen
00302593 P14 PubMed: Wen 2020 - F - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain increased extracerebral space 2 1 Johan den Dunnen
00302594 P15 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain normal 2 1 Johan den Dunnen
00302595 P16 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain normal 2 1 Johan den Dunnen
00302596 P17 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden 2 1 Johan den Dunnen
00302597 P18 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden 2 1 Johan den Dunnen
00302598 P19 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain normal 2 1 Johan den Dunnen
00302599 P20 PubMed: Wen 2020 - M - China - - 0 - - AADCD severe, bedridden; EEG posterior temporal sharp; MRI brain normal 2 1 Johan den Dunnen
00302600 P21 PubMed: Wen 2020 - F - China - - 0 - - AADCD severe, bedridden; EEG normal; MRI brain normal 2 1 Johan den Dunnen
00302601 P22 PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - F - China - - 0 - - AADCD severe, bedridden; EEG slow background; MRI brain normal 2 1 Johan den Dunnen
00302602 P23 PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - F - China - - 0 - - AADCD severe, bedridden; EEG 2-3.5 Hz slow wave; MRI brain normal 2 1 Johan den Dunnen
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