Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus

Preferred Label : Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus;

Symbol : NEDSTO;

Type : Phenotype, molecular basis known;

Prefixed ID : #619653;

Details

Origin ID

619653;

UMLS CUI

C5562040;

Genes related to phenotype
- Tenascin r [OMIM gene]
HPO term(s)
- Apraxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS demyelination [HPO term]
- Choreoathetosis [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Distal upper limb amyotrophy [HPO term]
- Distal upper limb muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Generalized dystonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hyperreflexia in upper limbs [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Lower limb hyperreflexia [HPO term]
- Motor delay [HPO term]
- Opisthotonus [HPO term]
- Parkinsonism [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Slow saccadic eye movements [HPO term]
- Spastic tetraparesis [HPO term]
- Spasticity [HPO term]
- Thin corpus callosum [HPO term]
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