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Ontology Browser

Term:
Hypomyelinating Leukodystrophy 17 (DOID:9009183)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 15  
Hypomyelinating Leukodystrophy 16  
Hypomyelinating Leukodystrophy 17  
An autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD) with brain imaging showing multiple abnormalities. (OMIM)
Hypomyelinating Leukodystrophy 18  
Hypomyelinating Leukodystrophy 19  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 6  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
Pelizaeus-Merzbacher disease +   

Synonyms
Exact Synonyms: HLD17 ;   hypomyelinating leukodystrophy-17
Primary IDs: OMIM:618006

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