PAINE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MICROCEPHALY WITH SPASTIC DIPLEGIA SEEMANOVA SYNDROME I, INCLUDED
Number of Symptoms 8
OrphanetNr:
OMIM Id: 311400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0001264) Spastic diplegia 24 / 7739
3
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
4
 (HPO:0001417) X-linked inheritance 173 / 7739
5
 (OMIM) Absent abdominal reflexes 1 / 7739
6
 (HPO:0006955) Olivopontocerebellar hypoplasia 3 / 7739
7
 (OMIM) Hypoplasia of cerebellum, inferior olives and pons 1 / 7739
8
 (OMIM) Variable elevated spinal fluid amino acids 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: