All individuals with variants in gene SLC16A2

20 entries on 1 page. Showing entries 1 - 20.
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VIP     
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Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00016962 19377130-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00017003 - - - M - France ? - - - - AHDS - 1 1 Catherine Barriere
00017004 - - - M - France ? - - - - AHDS - 1 1 Catherine Barriere
00017024 Pat20 PubMed: Tzschach 2015 family, 1 affected, unaffected heterozygous carrier mother/grandmother M - - ? - - - - MRX;IDX severe intellectual disability, not able to walk, no speech, spastic paraplegia, dystonia, strabismus, optic atrophy, cryptorchidism, short stature (150 cm, <3rd centile), severely underweight (28 kg), OFC 54 cm (3rd-10th centile); 2y6m-MRI brain severely delayed myelination; thyroid parameters showed low T4, normal TSH, elevated T3 1 1 Andreas Tzschach
00079672 - - - M no Italy whites - - - - AHDS - 1 1 Francesca Novara
00079673 - - - M no Italy white - - - - AHDS - 1 1 Francesca Novara
00079674 - - - M no Italy white - - - - AHDS - 1 1 Francesca Novara
00081024 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - - - - AHDS Allan-Herndon-Dudley syndrome (OMIM:300523) 1 1 Daniel Trujillano
00180167 29286531-Pat19 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Epileptic encephalopathy (HP:0200134), severe global developmental delay (HP:0011344). 1 1 Johan den Dunnen
00183120 FamL107 PubMed: Philips 2014, PubMed: Hu 2016 4-generation family, 3 affected (3M), 1 unaffected heterozygous carrier female M - Finland - - - - - MRX;IDX - 1 3 Johan den Dunnen
00183121 25644381-FamP52 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00183163 25644381-FamD299 PubMed: Hu 2016 family, 1 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 1 Johan den Dunnen
00183662 27620904-Pat07 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00296785 APN-110 PubMed: Redin 2014 analysis 106 patients; 3-generation family, 2 affected brothers/uncle, unaffected carrier mother M - France - - - - - ID severe intellectual disability 1 3 Johan den Dunnen
00374494 S-2432 PubMed: Ganapathy 2019 - - - India - - - - - ? Cerebral atrophy and global developmental delay 1 1 Johan den Dunnen
00399155 FamD299 PubMed: Philips 2014 3-generation family, 3 affected half-brothers, unaffected heterozygous carrier mother M - Finland - - - - - ID see paper; ... 1 3 Johan den Dunnen
00418504 Fam1 PubMed: He 2022 - - - China - - - - - ? - 1 1 Johan den Dunnen
00434058 - - - - - - - - - - - AHDS intellectual disability, epilepsy 1 1 Marketa Wayhelova
00436417 270375 - - M - Germany - - - - - AHDS Intellectual disability, Delayed speech and language development 1 1 Andreas Laner
00440352 Pat34;PED1338.1 PubMed: Thevenon 2016, PubMed: Nambot 2018 family, several affected M - France - 02y - - - NDD 2y-deceased, epilepsy; epileptic encephalopathy 1 1 Johan den Dunnen
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