CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1

General Information (adopted from Orphanet):

Synonyms, Signs: CPSQ1
Number of Symptoms 9
OrphanetNr:
OMIM Id: 603513
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0001276) Hypertonia 317 / 7739
3
(HPO:0003487) Babinski sign 179 / 7739
4
(HPO:0002510) Spastic tetraplegia 54 / 7739
5
(HPO:0001347) Hyperreflexia 363 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0002650) Scoliosis 705 / 7739
8
(HPO:0001371) Flexion contracture 220 / 7739
9
(OMIM) Spastic diplegia, symmetric 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). The ...
Clinical Description OMIM Mitchell and Bundey (1997) and McHale et al. (1999) reported a consanguineous family of Pakistani origin in which 4 sibs had spastic cerebral palsy with onset in infancy. All had moderate to severe mental retardation. All had spasticity ...
Molecular genetics OMIM In 4 affected sibs of a consanguineous Pakistani family with autosomal recessive spastic cerebral palsy reported by Mitchell and Bundey (1997), Lynex et al. (2004) identified a homozygous mutation in the GAD1 gene (605363.0001).
Population genetics OMIM The common forms of cerebral palsy have an incidence of 1 in 250 to 1,000 births (Pharoah et al., 1987; Bundey and Alam, 1993). However, approximately 2% of all CP cases in Swedish and English children are believed ...