Basal ganglia calcification, idiopathic, 8, autosomal recessive

Preferred Label : Basal ganglia calcification, idiopathic, 8, autosomal recessive;

Symbol : IBGC8;

CISMeF acronym : IBGC8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the junctional adhesion molecule 2 gene (JAM2, 606870.0001);

Laboratory abnormalities : Normal serum calcium; Normal serum phosphate; Normal serum parathyroid hormone;

Prefixed ID : #618824;

Details

Origin ID

618824;

UMLS CUI

C5394199;

Genes related to phenotype
- Junctional adhesion molecule 2 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Basal ganglia calcification [HPO term]
- Bradykinesia [HPO term]
- Brisk reflexes [HPO term]
- Cerebellar calcifications [HPO term]
- Dysarthria [HPO term]
- Generalized dystonia [HPO term]
- Hypertonia [HPO term]
- Hypomimic face [HPO term]
- Limb ataxia [HPO term]
- Limb dystonia [HPO term]
- Mental deterioration [HPO term]
- Nystagmus [HPO term]
- Orofacial dyskinesia [HPO term]
- Parkinsonism [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Thalamic calcification [HPO term]
ORDO concept(s)
- Bilateral striopallidodentate calcinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Bilateral striopallidodentate calcinosis [ORDO Disease]

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