Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia

Preferred Label : Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia;

Symbol : LDMLS1;

CISMeF acronym : IDDCA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder with cardiac arrhythmia; IDDCA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, beta-5 gene (GNB5, 604447.0001);

Prefixed ID : #617173;

Details

Origin ID

617173;

UMLS CUI

C5568877;

Currated CISMeF NLP mapping
- G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) [SNOMED CT concept]
- Intellectual Developmental Disorder with Cardiac Arrhythmia [NCIt concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, beta-5 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Arrhythmia [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]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Retinal degeneration [HPO term]
- Seizure [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]
UMLS correspondences (same concept)
- G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) [SNOMED CT concept]
- Intellectual Developmental Disorder with Cardiac Arrhythmia [NCIt concept]

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