CNS hypomyelination

Symptom Information:

Symptom ID: HPO:0003429
Synonyms:
Hypomyelination [OMIM:Hypomyelination]
Quality:
Cross references:
OMIM: "Hypomyelination" [OMIM:Hypomyelination]
UMLS:C0544820 "Hypomyelination" [HPO:0003429]
Is a (Direct Parents):
HPO         Abnormal CNS myelination
Is a (Whole tree): HPO:
MedDRA:
Database Frequency: 21 / 7739
Resource:

All diseases associated with this symptom:

Adenylosuccinate lyase deficiency (Orphanet:46)
CADDS (Orphanet:369942)
Charcot-Marie-Tooth disease type 4A (Orphanet:99948)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital cataract-hearing loss-severe developmental delay syndrome (Orphanet:300313)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (Orphanet:363412)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation (Orphanet:137898)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY (OMIM:615760)
MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS (OMIM:601170)
Odontoleukodystrophy (Orphanet:77295)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Phenylketonuria (Orphanet:716)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)