Disease #05263 (LDMLS1;IDDCA (Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (IDDCA)), OMIM:617173)

Official abbreviation LDMLS1;IDDCA
Name Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (IDDCA)
OMIM ID 617173
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene GNB5
Associated tissues -
Disease features -
Remarks -
Date created 2017-04-22 14:08:10 +02:00 (CEST)
Date last edited 2024-03-07 18:08:49 +01:00 (CET)


Individuals

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00467806 345406 - - M yes Turkey - - - - - LDMLS1;IDDCA Neurodevelopmental delay, Hypotonia, Sick sinus syndrome, Focal-onset seizure, Absent speech, Inability to walk GNB5 GNB5 1 1 Andreas Laner
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