CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2

General Information (adopted from Orphanet):

Synonyms, Signs: CPSQ2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 612900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance with maternal imprinting
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100021) Cerebral palsy 36 / 7739
2
(HPO:0002510) Spastic tetraplegia 54 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0001252) Muscular hypotonia 990 / 7739
5
(HPO:0002119) Ventriculomegaly 253 / 7739
6
(HPO:0012275) Autosomal dominant inheritance with maternal imprinting 1 / 7739
7
(HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lerer et al. (2005) described a nonconsanguineous 4-generation Israeli family of Jewish Moroccan origin in which 9 children were affected with a congenital neurodegenerative disease resembling cerebral palsy. Congenital hypotonia evolved over the first year to spastic quadriplegia ...
Molecular genetics OMIM Using segregation analysis, Southern hybridization, and long-range PCR, Lerer et al. (2005) identified a 225-kb deletion at chromosome 9p24 in affected and carrier members of the 4-generation family with a cerebral palsy-like disorder studied by them. The ANKRD15 ...