Disease #02777 (AADCD (aromatic-L-amino-acid decarboxylase deficiency (AADCD)), OMIM:608643)

Official abbreviation AADCD
Name aromatic-L-amino-acid decarboxylase deficiency (AADCD)
OMIM ID 608643
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 23
Phenotype entries for this disease 23
Associated with 1 gene DDC
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-05-26 11:26:42 +02:00 (CEST)


Individuals

23 entries on 1 page. Showing entries 1 - 23.
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00302580 P1 PubMed: Wen 2020 - F - China - - - - - 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 DDC DDC 1 1 Johan den Dunnen
00302581 P2 PubMed: Wen 2020 - F - China - - - - - 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 DDC DDC 2 1 Johan den Dunnen
00302582 P3 PubMed: Wen 2020 - F - China - - - - - AADCD disease moderate severity; 10m-head control; 19m-turn over; 19m-sit; now babble; EEG sharp slow wave ; MRI brain delayed myelination DDC DDC 2 1 Johan den Dunnen
00302583 P4 PubMed: Wen 2020 - F - China - - - - - AADCD disease moderate severity; 12m-head control; 14m-turn over; 18m-sit; 8m-babble; 27m-walk; EEG normal; MRI brain increased extracerebral space DDC DDC 2 1 Johan den Dunnen
00302584 P5 PubMed: Wen 2020 - F - China - - - - - AADCD severe, bedridden DDC DDC 1 1 Johan den Dunnen
00302585 P6 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain delayed myelination DDC DDC 1 1 Johan den Dunnen
00302586 P7 PubMed: Wen 2020 - F - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain normal DDC DDC 1 1 Johan den Dunnen
00302587 P8 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain normal DDC DDC 1 1 Johan den Dunnen
00302588 P9 PubMed: Wen 2020 - F - China - - - - - AADCD severe, bedridden DDC DDC 2 1 Johan den Dunnen
00302589 P10 PubMed: Wen 2020 - F - China - - - - - AADCD severe, bedridden; EEG normal DDC DDC 2 1 Johan den Dunnen
00302590 P11 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden; MRI brain delayed myelination DDC DDC 2 1 Johan den Dunnen
00302591 P12 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain delayed myelination DDC DDC 2 1 Johan den Dunnen
00302592 P13 PubMed: Wen 2020 - F - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain increased extracerebral space DDC DDC 2 1 Johan den Dunnen
00302593 P14 PubMed: Wen 2020 - F - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain increased extracerebral space DDC DDC 2 1 Johan den Dunnen
00302594 P15 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain normal DDC DDC 2 1 Johan den Dunnen
00302595 P16 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain normal DDC DDC 2 1 Johan den Dunnen
00302596 P17 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden DDC DDC 2 1 Johan den Dunnen
00302597 P18 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden DDC DDC 2 1 Johan den Dunnen
00302598 P19 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain normal DDC DDC 2 1 Johan den Dunnen
00302599 P20 PubMed: Wen 2020 - M - China - - - - - AADCD severe, bedridden; EEG posterior temporal sharp; MRI brain normal DDC DDC 2 1 Johan den Dunnen
00302600 P21 PubMed: Wen 2020 - F - China - - - - - AADCD severe, bedridden; EEG normal; MRI brain normal DDC DDC 2 1 Johan den Dunnen
00302601 P22 PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - F - China - - - - - AADCD severe, bedridden; EEG slow background; MRI brain normal DDC DDC 2 1 Johan den Dunnen
00302602 P23 PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - F - China - - - - - AADCD severe, bedridden; EEG 2-3.5 Hz slow wave; MRI brain normal DDC DDC 2 1 Johan den Dunnen
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