Jaberi-elahi syndrome

Preferred Label : Jaberi-elahi syndrome;

Symbol : JABELS;

CISMeF acronym : JABELS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NEDFET2; Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GTP-binding protein 2 gene (GTPBP2, 607434.0001);

Laboratory abnormalities : Iron parameters are low normal (family A);

Prefixed ID : #617988;

Details

Origin ID

617988;

UMLS CUI

C4693848;

Genes related to phenotype
- Gtp-binding protein 2 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the dentition [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Choreoathetosis [HPO term]
- Depressed nasal bridge [HPO term]
- Distal muscle weakness [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hand clenching [HPO term]
- Hyperreflexia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Joint stiffness [HPO term]
- Kyphosis [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Optic atrophy [HPO term]
- Protruding ear [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Spasticity [HPO term]
- Talipes [HPO term]
- Talipes equinovarus [HPO term]
- Tremor [HPO term]
- Triangular mouth [HPO term]
- Variable expressivity [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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