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136 Possible Causes for Diffuse Hypomyelination, Growth Retardation

  • Fucosidosis

    retardation.[ncbi.nlm.nih.gov] MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[ncbi.nlm.nih.gov] . • Typical MRI features combine bilateral globi pallidi hyperintensity on T1-weighted images that are hypointense on T2-weighted images with diffuse hypomyelination. • Proton[medlink.com]

  • Congenital Muscular Dystrophy

    This leads to heart defects, mental retardations and other neurological complications.[news-medical.net] Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] […] hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.[neurologyindia.com]

  • Hypomyelinating Leukodystrophy Type 5

    Trichothiodystrophy (Tay syndrome) (OMIM 601675 ) is characterized by growth retardation, intellectual disability, microcephaly, congenital ichthyosis, and brittle hair [[ncbi.nlm.nih.gov] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. this study describes[ncbi.nlm.nih.gov] Retardation, Imperforate Nasolacrimal Duct, And Premature Aging Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome[ukgtn.nhs.uk]

  • Oculo-Palato-Cerebral Syndrome

    In the majority of cases, postnatal growth is marked by statural (between -2.5 and -4 SD) and ponderal retardation.[orpha.net] Sasaki M, Takanashi J, Tada H, et al: Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev 2009; 31: 582-587.[plaza.umin.ac.jp] Clinical description Maternal hypertension, oligoamnios and intrauterine growth retardation (IUGR) are often noted during pregnancy.[orpha.net]

  • Ring Chromosome 18

    Ring chromosomes are one category of structurally abnormal chromosomes that can lead to severe growth retardation and other clinical defects.[ncbi.nlm.nih.gov] hypomyelination.[ncbi.nlm.nih.gov] Ring 18 phenotype is characterised by growth retardation, mental retardation and nonspecific abnormalities, also facial dysmorphism and malformations may be observed.[medicaljournal.gazi.edu.tr]

  • Cockayne Syndrome

    Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive[ncbi.nlm.nih.gov] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] Cockayne syndrome (CS) is an autosomal recessive disorder, which is associated with abnormal UV hypersensitivity, growth retardation, and psycho-neural abnormalities.[ncbi.nlm.nih.gov]

  • Pyruvate Carboxylase Deficiency

    retardation,progressive renal disease,increased glycogen stored but normal glycogen structure.. vallia Forum Guru Topics: 96 Posts: 884 Aug 20, 2006 - 8:44 AM #6 no ataxia[prep4usmle.com] Anatomic-pathologic studies revealed periventricular cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed.[ncbi.nlm.nih.gov] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Cornelia de Lange syndrome Mental & growth retardation Synophrys Micrognathia ASD & VSD 25.[slideshare.net] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.[disorders.eyes.arizona.edu]

  • Bonnemann-Meinecke-Reich Syndrome

    Affected individuals show psychomotor retardation and growth retardation, and most have short stature.[mendelian.co] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.es] Blepharophimosis nasal groove growth retardation[?] Blepharophimosis ptosis esotropia syndactyly short[?] Blepharophimosis ptosis syndactyly mental retardation[?][encyclopedia.kids.net.au]

  • Amaurosis-Hypertrichosis Syndrome

    retardation, facial anomalies, and early lethality—A new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs New mental retardation syndrome with[documents.mx] diffuses central nervous system Macular ataxia myoclonies dégénerescence Ataxia myosis congenital Ataxia opsoclonie myoclonie Ataxia pancytopénie Family paroxystic ataxia[wikipedia.qwika.com] , Autosomal Recessive 5 Mental Retardation , Microcephaly , Growth Retardation , Joint Contractures ,And Facial Dysmorphism Mental Retardation , X-Linked, Syndromic, Christianson[familydiagnosis.com]

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