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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
basal ganglia calcification +
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification
brain small vessel disease 1
Calcific Aortic Disease with Immunologic Abnormalities, Familial
Calcification of Aortic Valve +
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Choroid Plexus Calcification with Mental Retardation
combined oxidative phosphorylation deficiency 12
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
Demyelinating Autoimmune Diseases, CNS +
diffuse idiopathic skeletal hyperostosis +
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epilepsy, Occipital Calcifications
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Fatal Fetal Cardiomyopathy due to Myocardial Calcification
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
hereditary arterial and articular multiple calcification syndrome +
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
hyperphosphatemic familial tumoral calcinosis +
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
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
Medial Coronary Sclerosis of Infancy
Multiple mitochondrial dysfunctions syndrome 8
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
normophosphatemic familial tumoral calcinosis
Oculocerebrocutaneous Syndrome
Oculopharyngeal Myopathy with Leukoencephalopathy 1
Piepkorn Karp Hickok syndrome
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
Posterior Leukoencephalopathy Syndrome
progressive leukoencephalopathy with ovarian failure
progressive multifocal leukoencephalopathy
pulmonary alveolar microlithiasis
Rajab Interstitial Lung Disease with Brain Calcifications +
Renal Hypophosphatemia with Intracerebral Calcifications
Ribose 5-Phosphate Isomerase Deficiency
RNASET2-deficient cystic leukoencephalopathy
Schofer Beetz Bohl Syndrome
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
Telencephalic Leukoencephalopathy
Tropical Calcific Pancreatitis
Whyte Murphy Fallon Sly syndrome
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
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