All individuals with variants in gene SLC6A1

17 entries on 1 page. Showing entries 1 - 17.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00116823 S_139:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116971 S_479:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117110 S_747:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00295536 - - - M - - - - - - - ? Seizures (HP:0001250); Global developmental delay (HP:0001263) 1 1 Andreas Laner
00296408 - - - F - - - - - - - ? Global developmental delay (HP:0001263) 1 1 IMGAG
00401646 244P - - M no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00408080 188413 - - F ? Germany - - - - - MAE Seizure, Seizure precipitated by febrile infection, EEG abnormality, Hyperhidrosis, Nausea and vomiting, Generalized non-motor (absence) seizure, Myoclonic seizure 1 1 Andreas Laner
00431864 214297 - - F no Germany - - - - - MAE Generalized non-motor (absence) seizure, Seizure, Generalized myoclonic-atonic seizure, Expressive language delay, Receptive language delay, EEG abnormality, Neurodevelopmental delay, Global developmental delay, Generalized non-motor (absence) seizure 1 1 Andreas Laner
00435117 257545 - - M no Germany - - - - - MAE (+) Pectus excavatum,(+) Seizure,(+) Absent speech,(+) Scoliosis,(+) Neurodevelopmental delay 1 1 Andreas Laner
00438326 Pat44 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0002121 absence seizures; HP:0001945 fever; HP:0000964 eczema 1 1 Johan den Dunnen
00440366 PED2064.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440427 PED3384.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00447861 283694 - - M ? ? (unknown) - - - - - MAE Neurodevelopmental delay, Intellectual disability, Autistic behavior 1 1 Andreas Laner
00455821 Pat61 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00471304 IS-DYS-398 PubMed: Zech 2017, PubMed: Zech 2020 patient - - - - - - - - DYT isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset adolescence (13-20y); segmental dystonia; no dystonic cerebral palsy 1 1 Johan den Dunnen
00472230 358911 - - M no Germany - - - - - MAE Positional foot deformity, Failure to thrive in infancy, Neurodevelopmental delay, Abnormality of the face, Abnormal skull morphology, Posteriorly rotated ears, Prominent superficial veins, Hypotonia, Delayed speech and language development, Melanocytic nevus 1 1 Andreas Laner
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