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Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Auditory Perceptual Impairment
brain small vessel disease 1
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Childhood-Onset Spasticity with Hyperglycinemia
combined oxidative phosphorylation deficiency 12
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
Demyelinating Autoimmune Diseases, CNS +
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-Guilbert Syndrome
Foix-Chavany-Marie Syndrome
Hengel-Maroofian-Schols syndrome
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
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
Koone Rizzo Elias Syndrome
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, PORPHYRIA-RELATED
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
Methylenetetrahydrofolate Reductase Deficiency
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
neurodevelopmental disorder with spasticity and poor growth
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS
Oculopharyngeal Myopathy with Leukoencephalopathy 1
Opticocochleodentate Degeneration
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
Posterior Leukoencephalopathy Syndrome
Powell Venencie Gordon syndrome
progressive leukoencephalopathy with ovarian failure
progressive multifocal leukoencephalopathy
Ribose 5-Phosphate Isomerase Deficiency
RNASET2-deficient cystic leukoencephalopathy
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
spastic paraplegia with deafness
syndromic X-linked intellectual disability Turner type
Telencephalic Leukoencephalopathy
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
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