MEGALENCEPHALY WITH DYSMYELINATION

General Information (adopted from Orphanet):

Synonyms, Signs: MEGALENCEPHALY WITH DIFFUSE WHITE MATTER HYPODENSITY
Number of Symptoms 12
OrphanetNr:
OMIM Id: 249240
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001250) Seizures 1245 / 7739
2
(HPO:0001257) Spasticity 251 / 7739
3
(HPO:0001251) Ataxia 413 / 7739
4
(HPO:0010852) EEG with photoparoxysmal response 7 / 7739
5
(OMIM) Dysmyelination without demyelination on brain biopsy 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
8
(OMIM) Brain stem auditory evoked potentials consistent with white matter disorder 1 / 7739
9
(HPO:0007266) Cerebral dysmyelination 13 / 7739
10
(OMIM) Posterior discharges and an unusual photoparoxysmal response on EEG 1 / 7739
11
(HPO:0001355) Megalencephaly 39 / 7739
12
(OMIM) Diffuse white matter hypodensity on CT scan 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 daughters of Iraqi first-cousin parents, Harbord et al. (1990) observed a progressive neurologic disorder characterized by megalencephaly, spasticity, ataxia, and seizures. Onset of manifestations occurred between ages 2 and 3. Computerized tomography scans showed diffuse hypodensity ...