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1,392 Possible Causes for Rett Syndrome

  • Autistic Disorder

    Point mutations and genomic rearrangements in the MECP2 gene are the major cause of Rett syndrome (RTT), a pervasive developmental disorder affecting almost exclusively females[ncbi.nlm.nih.gov] Symbiotic psychosis Type 1 Excludes Asperger's syndrome ( F84.5 ) Autistic disorder ( F84.0 ) Rett's syndrome ( F84.2 ) Use Additional code to identify any associated neurological[icd10data.com] ( F84.5 ) autistic disorder ( F84.0 ) ICD-10-CM Diagnosis Code F84.2 Rett's syndrome 2016 2017 2018 2019 Billable/Specific Code Type 1 Excludes Asperger's syndrome ( F84.5[icd10data.com]

  • Rett Syndrome

    Rett's disorder Rett's syndrome RTT Chahrour M, Zoghbi HY.[ghr.nlm.nih.gov] Rett's syndrome RTS RTT Chahrour M, Zoghbi HY.[web.archive.org] Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome.[ghr.nlm.nih.gov]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Guerrini R et. al. (1998) Cortical reflex myoclonus in Rett syndrome. [ ] 2.[moldiag.com] Disease Type of connection Atypical Rett syndrome Intellectual deficit, X-linked - psychosis - macroorchidism Rett syndrome Trisomy Xq28 X-linked non-syndromic intellectual[csbg.cnb.csic.es] […] sibs of patients with Rett syndrome.[ncbi.nlm.nih.gov]

  • Breath-Holding Spell

    […] or Rett syndrome Iron deficiency anemia A family history of breath holding spells (parents may have had similar spells when they were kids) Symptoms Breath holding spells[coordinatedhealth.com] […] or Rett syndrome Iron deficiency anemia A family history of breath holding spells (parents may have had similar spells when they were children) Symptoms Breath holding spells[nicklauschildrens.org] […] or Rett syndrome Iron deficiency anemia A family history of breath holding spells (parents may have had similar spells when they were children) Breath holding spells most[medlineplus.gov]

  • Early Infantile Epileptic Encephalopathy

    Acronym EIEE2 Synonyms Atypical Rett syndrome CDKL5-related Atypical Rett syndrome Hanefeld variant Infantile spasm syndrome X-linked 2 ISSX2 Rett syndrome early-onset seizure[uniprot.org] syndrome-like features.[ncbi.nlm.nih.gov] (OMIM) Synonyms: exact_synonym: CDKL5 Disorder; EIEE2; ISSX2; Infantile Spasm Syndrome, X-Linked 2; Rett Syndrome, Atypical, Cdkl5-Related; Rett Syndrome, Variant, With Infantile[rgd.mcw.edu]

  • Childhood Disintegrative Disorder

    Among these disorders are the Asperger syndrom e, Pervasive Developmental Disorder-Not Otherwise Specified, Childhood Disintegrative Disorder and the Rett syndrome .[uv.es] Unlike other forms of Autism, Rett syndrome mostly affects girls.[myaspergerschild.com] Type 1 Excludes Asperger's syndrome ( F84.5 ) F84.0 ) Rett's syndrome ( ICD-10-CM Diagnosis Code F84.2 Rett's syndrome 2016 2017 2018 2019 Billable/Specific Code Type 1 Excludes[icd10data.com]

  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet. 2010; 47(1): 49-53.[arupconsult.com] Dotti MT et al. (2002) A Rett syndrome MECP2 mutation that causes mental retardation in men. [ ] 9.[moldiag.com] Disease Type of connection Atypical Rett syndrome Rett syndrome Severe neonatal-onset encephalopathy with microcephaly Trisomy Xq28 X-linked non-syndromic intellectual deficit[csbg.cnb.csic.es]

  • Pitt-Hopkins Syndrome

    The symptoms in this patient are different from those in the Joubert syndrome, Rett syndrome, Rett-like variants, and of a case reported by Leifer et al. [1991: Dysmorph Clin[ncbi.nlm.nih.gov] Rett syndrome and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises[ncbi.nlm.nih.gov] Because of its phenotypic overlap, Pitt-Hopkins syndrome evolves as an important differential diagnosis to Angelman and Rett syndromes.[ncbi.nlm.nih.gov]

  • Beta-Propeller Protein-Associated Neurodegeneration

    syndrome U2 - 10.1093/brain/awt095 DO - 10.1093/brain/awt095 M3 - Article VL - 136 SP - 1708 EP - 1717 JO - Brain T2 - Brain JF - Brain SN - 0006-8950 IS - 6 ER -[cris.maastrichtuniversity.nl] The youngest patient reported with these MRI findings is a 6-year-old girl with Rett syndrome–like features diagnosed by whole exome sequencing. 8 In contrast, although our[pediatrics.aappublications.org] syndrome, KINASE-ASSOCIATED NEURODEGENERATION, PARKINSONS-DISEASE, MUTATIONS, FEATURES UCL classification: UCL Provost and Vice Provost Offices UCL Provost and Vice Provost[discovery.ucl.ac.uk]

  • Epilepsy with Continuous Spike-and-Slow-Waves during Sleep

    Rett syndrome Metabolic etiologies (e.g. mitochondrial disorders)[epilepsydiagnosis.org] Continuous spike and wave in slow-wave sleep in a patient with Rett syndrome and in a patient with Lhermitte-Duclos syndrome and neurofibromatosis 1.[pubfacts.com] Continuous Spike and Wave in Slow-Wave Sleep in a Patient With Rett Syndrome and in a Patient With Lhermitte-Duclos Syndrome and Neurofibromatosis 1.[connection.ebscohost.com]

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