TAG: Syndrome

1p36 Deletion Syndrome	2025/03/02 22:39	syndrome
22q11.2 Distal Deletion Syndrome	2025/02/16 21:15	syndrome
Aase-Smith Syndrome	2022/01/03 03:10	syndrome
Aicardi Syndrome	2015/06/20 16:33	syndrome
Alagille Syndrome	2025/03/31 22:26	syndrome
Albinism	2015/06/29 03:12	syndrome, albinism
Angelman Syndrome	2022/02/03 16:59	syndrome
Bardet-Biedl Syndrome	2024/05/21 20:08	syndrome
Batten Disease	2025/05/30 18:24	syndrome
Beckwith-Wiedemann Syndrome	2024/02/06 21:29	syndrome
Behçet Disease	2020/01/24 21:48	syndrome, uveitis
Behçet's Disease	2026/02/04 21:24	syndrome
CHARGE Syndrome	2015/06/14 14:55	syndrome
Chediak-Higashi syndrome	2025/02/25 04:09	syndrome, albinism
Ciliopathies and characteristic eye findings	2025/11/02 23:34	syndrome
Cobalamin C Disease	2022/02/08 01:54	syndrome
Cri-du-Chat Syndrome	2025/07/06 21:15	syndrome
Danon Disease	2025/05/20 14:32	syndrome
DiGeorge Syndrome	2022/01/31 14:39	syndrome
Donnai-Barrow Syndrome	2015/07/13 02:22	syndrome
Duane Syndrome	2015/07/04 02:23	strabismus, syndrome
Ectopia Lentis	2017/04/22 19:36	syndrome
Ehlers-Danlos Syndrome (EDS)	2024/04/11 19:06	syndrome
Exudative Vitreoretinopathy (EVR)	2023/03/12 19:32	syndrome
Facio-Digito-Genital Dysplasia Syndrome (Aarskog Syndrome)	2015/06/21 03:23	syndrome
Fragile X Syndrome	2025/06/01 21:38	syndrome
GM1 Gangliosidosis Type II (Juvenile Type)	2017/02/11 22:57	syndrome
GM1 Gangliosidosis Type 1 (Severe Infantile Type)	2017/02/11 22:48	syndrome
GM2 Gangliosidosis Type I (Tay-Sachs disease)	2017/02/11 23:07	syndrome
Goldenhar Syndrome	2015/07/04 02:34	syndrome
HADD Syndrome	2022/02/03 02:36	syndrome
Hermansky-Pudlack Syndrome	2015/06/29 03:16	syndrome, albinism
HNRNPU-related disorder	2025/03/02 21:28	syndrome
Horner syndrome and Cocaine	2015/06/20 23:26	syndrome, drugs
Incontientia Pigmenti	2015/07/04 02:43	syndrome
Joubert Syndrome	2015/11/10 01:36	syndrome
Kabuki Syndrome	2025/07/17 00:24	syndrome
KBG Syndrome	2025/04/16 03:36	syndrome
Kenny-Caffey Syndrome	2026/06/03 18:56	syndrome
Marfan Syndrome	2023/01/10 17:18	syndrome
Marinesco-Sjögren Syndrome	2015/09/15 03:09	syndrome
Metachromatic Leukodystrophy	2019/06/17 01:15	syndrome
Möbius Syndrome	2015/07/04 02:18	strabismus, syndrome
Newborn Metabolic Disease Screening	2023/10/18 13:10	syndrome
NGLY1 Deficiency	2025/03/11 02:16	syndrome
Noonan Syndrome	2022/09/25 23:47	syndrome
Oculofacialcardiodental Syndrome (OFCD)	2025/10/27 18:46	syndrome
Okur-Chung Neurodevelopmental Syndrome	2025/06/22 16:57	syndrome
Opitz Syndrome	2022/02/08 02:42	syndrome
PHACES Syndrome	2015/06/29 03:23	syndrome
Phakomatoses	2025/02/26 20:21	syndrome, ddx
Polydactyly and Eye disease	2024/05/21 19:59	ddx, syndrome
Prader-Willi Syndrome	2024/05/20 13:41	syndrome
PRR12 Gene Mutations	2025/11/11 18:40	syndrome
Rubinstein-Taybi Syndrome	2015/06/20 16:37	syndrome
Schimmelpenning-Feuerstein-Mims Syndrome	2025/06/22 17:30	syndrome
Sjögren Syndrome	2023/03/07 20:50	syndrome
Smith-Lemli-Optiz Syndrome	2015/06/14 15:03	syndrome
Smith-Magenis Syndrome	2022/03/02 14:21	syndrome
Snijders Blok-Campeau Syndrome	2025/02/16 18:46	syndrome
Sotos Syndrome	2025/07/01 22:53	syndrome
Stickler Syndrome	2026/02/02 19:22	syndrome
SYNGAP1-related disorder	2025/10/27 01:29	syndrome
TARP syndrome	2025/05/18 23:48	syndrome
Treacher-Collins Syndrome	2026/03/16 16:23	syndrome
Trisomy 13	2025/09/29 14:57	syndrome
Trisomy 18	2025/09/29 14:41	syndrome
Tuberous Sclerosis Complex	2025/02/23 23:02	syndrome, phakomatosis
Turner Syndrome and Mosaic Turner Syndrome	2025/10/01 15:18	syndrome
Usher Syndrome	2025/01/13 14:55	syndrome
VACTERL Association	2025/05/21 02:10	syndrome
Waardenburg Syndrome	2025/04/16 03:01	syndrome
Wiedemann-Steiner Syndrome	2026/05/26 14:23	syndrome
Williams Syndrome	2025/05/20 22:30	syndrome
Wilson Disease	2025/02/18 03:38	syndrome
Zellweger Spectrum Disorder	2025/09/16 00:05	syndrome
ZZTemplate Syndrome	2022/01/02 22:23	syndrome