Disease #03782 (SANDD (dysfunction, node, sinoatrial and deafness (SANDD)), OMIM:614896)

Official abbreviation SANDD
Name dysfunction, node, sinoatrial and deafness (SANDD)
OMIM ID 614896
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene CACNA1D
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00100607 21131953-FamDEM9 PubMed: Baig 2011, Journal: Baig 2011 4-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - SANDD see paper; ..., congenital deafness, bradycardia CACNA1D CACNA1D 1 4 Johan den Dunnen
00100608 21131953-FamDEM81 PubMed: Baig 2011, Journal: Baig 2011 6-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents/sibs M yes Pakistan - - - - - SANDD see paper; ..., congenital deafness, bradycardia CACNA1D CACNA1D 1 3 Johan den Dunnen
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