Cerebral hypomyelination

Symptom Information:

Symptom ID: HPO:0006808
Synonyms:
Hypomyelination of the brain [HPO:0006808]
Quality:
Cross references:
Is a (Direct Parents):
HPO         Abnormal CNS myelination
Is a (Whole tree): HPO:
MedDRA:
Database Frequency: 16 / 7739
Resource:

All diseases associated with this symptom:

Adenylosuccinate lyase deficiency (Orphanet:46)
CACH syndrome (Orphanet:135)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 (OMIM:612164)
Epileptic encephalopathy with global cerebral demyelination (Orphanet:353217)
Fucosidosis (Orphanet:349)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Isolated sedoheptulokinase deficiency (ORPHA:440713)
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS (OMIM:601170)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)