CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: ATAXIC CEREBRAL PALSY
ACP
Number of Symptoms 10
OrphanetNr:
OMIM Id: 605388
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000666) Horizontal nystagmus 32 / 7739
2
(HPO:0100021) Cerebral palsy 36 / 7739
3
(HPO:0001270) Motor delay 322 / 7739
4
(HPO:0001260) Dysarthria 329 / 7739
5
(HPO:0002075) Dysdiadochokinesis 40 / 7739
6
(HPO:0002136) Broad-based gait 30 / 7739
7
(HPO:0001251) Ataxia 413 / 7739
8
(HPO:0003593) Infantile onset 249 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(HPO:0001272) Cerebellar atrophy 197 / 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). It ...
Clinical Description OMIM McHale et al. (2000) identified a complex consanguineous Asian pedigree with 4 children in 2 sibships affected with ataxic CP. Three of the children had simple ataxic CP and 1 child had ataxic diplegic CP. All 4 children ...