Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia

Preferred Label : Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia;

Symbol : LDMLS2;

CISMeF acronym : LADCI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LADCI; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, beta-5 gene (GNB5, 604447.0006);

Prefixed ID : #617182;

Details

Origin ID

617182;

UMLS CUI

C4310678;

Genes related to phenotype
- Guanine nucleotide-binding protein, beta-5 [OMIM gene]
HPO term(s)
- Arrhythmia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Delayed speech and language development [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Poor fine motor coordination [HPO term]
- Sick sinus syndrome [HPO term]
ORDO concept(s)
- GNB5-related intellectual disability-cardiac arrhythmia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients