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Term:
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
(DOID:9006484)
Annotations:
Rat: (1)
Mouse: (1)
Human: (1)
Chinchilla: (1)
Bonobo: (1)
Dog: (1)
Squirrel: (1)
Pig: (1)
Parent Terms
Term With Siblings
Child Terms
Hereditary Central Nervous System Demyelinating Diseases
+
Leukoencephalopathies
+
paraplegia
+
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Adult-Onset Muscular Dystrophy with Leukoencephalopathy
brain small vessel disease 1
Brown-Sequard syndrome
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebroretinal Microangiopathy with Calcifications and Cysts
+
combined oxidative phosphorylation deficiency 12
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
Demyelinating Autoimmune Diseases, CNS
+
developmental and epileptic encephalopathy 39
Dysmyelinating Leukodystrophy with Oligodontia
Dysmyelination with Jaundice
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy
+
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
Fryns Macrocephaly
Hereditary Central Nervous System Demyelinating Diseases
+
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
hereditary spastic paraplegia
+
hypomyelinating leukodystrophy
+
hypomyelinating leukoencephalopathy
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
Krabbe disease
+
Labrune Syndrome
Leber hereditary optic neuropathy with demyelinating disease of CNS
Leukoencephalopathy with Ataxia
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Dystonia and Motor Neuropathy
leukoencephalopathy with vanishing white matter
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
megalencephalic leukoencephalopathy with subcortical cysts
+
Megalencephaly with Dysmyelination
Mental Retardation with Spastic Paraplegia
metachromatic leukodystrophy
+
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
Oculopharyngeal Myopathy with Leukoencephalopathy 1
Optic Atrophy Spastic Paraplegia Syndrome
Optic Atrophy with Demyelinating Disease of CNS
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
Posterior Leukoencephalopathy Syndrome
Progressive Leukoencephalopathy, with Ovarian Failure
progressive multifocal leukoencephalopathy
retinal vasculopathy with cerebral leukodystrophy
Ribose 5-Phosphate Isomerase Deficiency
RNASET2-deficient cystic leukoencephalopathy
spastic ataxia 3
Spastic Paraplegia, Ataxia, and Mental Retardation
SPOAN syndrome
Telencephalic Leukoencephalopathy
vascular dementia
+
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
Synonyms
Exact Synonyms:
ASPARTYL-tRNA SYNTHETASE DEFICIENCY ; HBSL
Primary IDs:
OMIM:615281
; RDO:9000890