MICROCEPHALY WITH SPASTIC QUADRIPLEGIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 251280
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:0005484) Postnatal microcephaly 32 / 7739
2
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0002510) Spastic tetraplegia 54 / 7739
5
 (HPO:0003593) Infantile onset 249 / 7739
6
 (OMIM) Early-onset myoclonic seizures 1 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: