Cerebral palsy, spastic quadriplegic, 3

Preferred Label : Cerebral palsy, spastic quadriplegic, 3;

Symbol : CPSQ3;

CISMeF acronym : CPSQ3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adducin 3 gene (ADD3, 601568.0001);

Prefixed ID : #617008;

Détails

Origin ID

617008;

UMLS CUI

C4310767;

Currated CISMeF NLP mapping
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]
- Severe intellectual disability and progressive spastic paraplegia (disorder) [SNOMED CT concept]
- Spastic Paraplegia 50 [NCIt concept]
- hereditary spastic paraplegia 50 [DO Concept]
- spastic Paraplegia-50, autosomal recessive [MeSH Supplementary Concept]
Genes related to phenotype
- Adducin 3 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Convergence-retraction nystagmus [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Exotropia [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Infantile onset [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Spastic diplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Supranuclear gaze palsy [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Inherited congenital spastic tetraplegia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic Paraplegia 50 [NCIt concept]

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