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1,108 Possible Causes for Hypomyelination

  • Hypomyelination - Congenital Cataract

    […] and hypomyelination of the central and peripheral nervous system.[] […] distinction of HCC from other forms of hypomyelinating leukoencephalopathies.[] Hypomyelination and congenital cataract (HCC) is a rare autosomal recessive white matter disorder characterized by congenital cataract, progressive neurologic impairment,[]

  • Pelizaeus-Merzbacher Disease

    Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes.[] A diffuse pattern of hypomyelination is seen on magnetic resonance imaging (MRI) of PMD/SPG2 patients.[] Pelizaeus-Merzbacher disease (PMD) is a rare Mendelian disorder characterised by central nervous system hypomyelination.[]

  • Leukodystrophy

    Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development.[] […] in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating[] The diagnosis of 4H leukodystrophy (hypomyelination, hypogonadotropic hypogonadism, and hypodontia) is based on clinical findings and magnetic resonance imaging (MRI).[]

  • Déjerine-Sottas Disease

    , consistent with congenital hypomyelination neuropathy (CHN).[] They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy.[] A sural nerve biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation, and hypomyelination.[]

  • Anemia

    McGregor, do you want to bring up the protein-energy malnutrition literature and hypomyelination? Dr.[] You could ultimately have, for example, in a hypomyelinated condition, that they catch up, but developmentally, things could not have been on track.[] Second, the information on hypomyelination and on dopamine, γ-aminobutyric acid, and serotonin is tremendously valuable for understanding the neurobiological effects of iron[]

  • Peripheral Neuropathy

    Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy.[] […] asymmetric demyelinating-type peripheral neuropathy, and sural nerve biopsy documented reduced myelinated nerve fiber density with uniformly thin myelin sheaths, suggesting hypomyelination[] We describe a consanguineous girl exhibiting severe developmental regression, intractable epilepsy, polyneuropathy, and profound hypomyelination with cortical involvement.[]

  • Autosomal Recessive Spastic Paraplegia Type 44

    Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2); also known as Pelizaeus-Merzbacher-like disease autosomal recessive type 1.[] Involvement in disease Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]; also known as Pelizaeus-Merzbacher-like disease autosomal[] […] paresis, autosomal recessive Du Pan syndrome GHR OMIM GIPC3 Autosomal recessive deafness 15 GHR GeneReviews OMIM GJB2 Autosomal recessive deafness 1A GHR GeneReviews OMIM GJC2 Hypomyelinating[]

  • Arthritis

    Stowe and Lakshmi Raman, Perinatal chronic hypoxia induces cortical inflammation, hypomyelination, and peripheral myelin‐specific T cell autoreactivity, Journal of Leukocyte[]

  • West Syndrome

    Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination.[] All patients had striking hypomyelination of cerebrum, reduced volume of white matter and cortical atrophy on MRI.[] Severe hypomyelination of the cerebral white matter was revealed at the age of 1 year, and a de novo heterozygous mutation in the SPTAN1 gene was confirmed.[]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Cataract Syndrome Leukodystrophy , Hypomyelinating, 5 Madras Motor Neuron Disease Mast Syndrome Microcephalic Primordial Dwarfism Due To Znf335 Deficiency Orofaciodigital[] Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental[] Jacobsen Syndrome Joubert Syndrome 9 Kabuki Syndrome Knobloch Syndrome , Type I Kohlschutter-Tonz Syndrome Koolen-De Vries Syndrome Langer-Giedion Syndrome Leukodystrophy , Hypomyelinating[]

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