Pelizaeus-Merzbacher-like disease

General Information (adopted from Orphanet):

Synonyms, Signs: PMLD
Number of Symptoms 23
OrphanetNr: 280270
OMIM Id: 260600
300523
608804
612233
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000280) Coarse facial features 189 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000505) Visual impairment 297 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0002313) Spastic paraparesis 33 / 7739
6
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
7
 (HPO:0002353) EEG abnormality 188 / 7739
8
 (HPO:0001250) Seizures variable [HPO:skoehler] 1245 / 7739
9
 (HPO:0005876) Progressive flexion contractures 4 / 7739
10
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
11
 (HPO:0002751) Kyphoscoliosis 131 / 7739
12
 (HPO:0001622) Premature birth 100 / 7739
13
 (HPO:0002587) Projectile vomiting 2 / 7739
14
 (HPO:0001508) Failure to thrive 454 / 7739
15
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (HPO:0001522) Death in infancy 275 / 7739
18
 (HPO:0003269) Sudanophilic leukodystrophy 3 / 7739
19
 (HPO:0003676) Progressive disorder 148 / 7739
20
 (HPO:0002283) Global brain atrophy 12 / 7739
21
 (HPO:0007371) Corpus callosum atrophy 14 / 7739
22
 (HPO:0006918) Diffuse cerebral sclerosis 2 / 7739
23
 (HPO:0002415) Leukodystrophy 30 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: