INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA

Question 1

What is  INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA?

Accepted Answer

very rae

autosomal recessive

mutation in the GNB5 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617173

Question 3

Which enzymes are involved?

Accepted Answer

Guanine nucleotide-binding protein subunit beta-5

Disease	INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA
OMIM	617173 OMIM = Online Mendelian Inheritance of Men
Orphanet	542306
Protein (UniProt)	Guanine nucleotide-binding protein subunit beta-5
Gene locus	15q21.2
ICD
Summary	very rae autosomal recessive mutation in the GNB5 gene
Laboratory findings	3-Methylglutaconic acid normal/inc (urine)
Symptoms	bradycardia cardiac arrhythmia, dysrhythmia developmental delay ECG abnormalities [-] epilepsy gastroesophageal reflux hypotonia intellectual disability/intellectual developmental disorder nystagmus onset, childhood onset, infancy retinal or macular degeneration seizures speech development, delayed, abnormal