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Ontology Browser

Term:
Megalencephaly with Dysmyelination (DOID:9002184)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
Bagatelle Cassidy syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Benign Familial Macrocephaly 
chromosome 17q11.2 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Dysmyelinating Leukodystrophy with Oligodontia  
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 39  
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Fryns Macrocephaly 
Hemimegalencephaly +   
hypomyelinating leukodystrophy +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
Kniest Like Dysplasia Lethal  
Krabbe disease +   
Leber hereditary optic neuropathy with demyelinating disease of CNS 
Luscan-Lumish syndrome  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Dysmyelination 
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, X-Linked 93  
metachromatic leukodystrophy +   
Neuhauser Syndrome 
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
Optic Atrophy with Demyelinating Disease of CNS 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
retinal vasculopathy with cerebral leukodystrophy  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Snijders Blok-Campeau Syndrome  
syndromic X-linked intellectual disability Turner type  
THAUVIN-ROBINET-FAIVRE SYNDROME  
X-linked VACTERL association  
Zori Stalker Williams Syndrome 

Synonyms
Exact Synonyms: Megalencephaly with Diffuse White Matter Hypodensity
Primary IDs: MESH:C565408 ;   RDO:0014051

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.