Joubert syndrome 24

Preferred Label : Joubert syndrome 24;

Symbol : JBTS24;

CISMeF acronym : JBTS24;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tectonic family, member 2 gene (TCTN2, 613846.0002);

Prefixed ID : #616654;

Details

Origin ID

616654;

UMLS CUI

C4084841;

Currated CISMeF NLP mapping
- Joubert syndrome 24 [DO Concept]
DO Cross reference
- Joubert syndrome 24 [DO Concept]
Genes related to phenotype
- Tectonic family, member 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dysmetria [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Nystagmus [HPO term]
- Pachygyria [HPO term]
- Polymicrogyria [HPO term]
- Postaxial hand polydactyly [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
See also inter- (CISMeF)
- tectonic family member 2 [ORDO Gene]
- tectonic family member 2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Joubert syndrome [ORDO Disease]

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