ZFIN Human Disease: intellectual developmental disorder with cardiac arrhythmia

OBO ID: DOID:0081008

Term Name:	intellectual developmental disorder with cardiac arrhythmia		Search Ontology:
Synonyms:	GNB5-related intellectual disability-cardiac arrhythmia syndrome
Definition:	A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. https://pubmed.ncbi.nlm.nih.gov/27523599/
References:	OMIM:617173 ORDO:542306
Ontology:	Human Disease ( DOID:0081008 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER intellectual developmental disorder with cardiac arrhythmia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GNB5	gnb5a gnb5b	Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	617173

ZEBRAFISH MODELS

Fish	Conditions	Citations
gnb5a^{hu11433/hu11433}; gnb5b^{hu11443/hu11443}	standard conditions	Veerman et al., 2019
gnb5a^{hu11433/hu11433}; gnb5b^{hu11443/hu11443}	standard conditions	Lodder et al., 2016

PHENOTYPE No data available

CITATIONS (2)