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cerebral palsy spastic quadriplegic type 2
Pathology:
- defects in the developing central nervous system
Genetics:
- associated with defects in KANK1
Clinical manifestations:
- non-progressive disorder of movement &/or posture
- affected individuals manifest congenital hypotonia evolving over the 1st year to spastic quadriplegia with accompanying transient nystagmus & varying degrees of mental retardation
Radiology:
- neuroimaging shows brain atrophy & ventriculomegaly
General
cerebral palsy
Database Correlations
OMIM 612900
References
OMIM :accession 612900