Disease #00408

Official abbreviation AHDS
Name syndrome, Allan-Herndon-Dudley (AHDS)
OMIM ID 300523
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene SLC16A2
Associated tissues -
Disease features X-linked
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00017003 - - - M - France ? - 0 - - AHDS - SLC16A2 SLC16A2 1 1 Catherine Barriere
00017004 - - - M - France ? - 0 - - AHDS - SLC16A2 SLC16A2 1 1 Catherine Barriere
00017920 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - 0 - - AHDS - A2M - 0 1 Elisabet Ars Criach
00079672 - - - M no Italy Caucasians - 0 - - AHDS - SLC16A2 SLC16A2 1 1 Francesca Novara
00079673 - - - M no Italy Caucasian - 0 - - AHDS - SLC16A2 SLC16A2 1 1 Francesca Novara
00079674 - - - M no Italy Caucasian - 0 - - AHDS - SLC16A2 SLC16A2 1 1 Francesca Novara
00081024 - Trujillano et al., submitted unaffected heterozygous carrier mother - - - - - 0 - - AHDS Allan-Herndon-Dudley syndrome (OMIM:300523) SLC16A2 SLC16A2 1 1 Daniel Trujillano
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