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1,362 Possible Causes for Cognitive Developmental Delay, Hypertrichosis of Eyebrows, Mutation in the MLL Gene

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[news-medical.net] delay of the reported patients.[emedicine.medscape.com] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Alpha-Mannosidosis

    Physical findings: Cognitive and motor developmental delay, or intellectual disability; hepatosplenomegaly (enlargement of the liver and spleen), large head, protruding forehead[secure.ssa.gov]

    Missing: Mutation in the MLL Gene
  • Iron Deficiency

    The latter include decreased aerobic work performance, hair loss, developmental delay, cognitive and intellectual impairment, adverse pregnancy outcome, and impaired immune[www2.gov.bc.ca] Reversal of developmental delays in iron-deficient anaemic infants treated with iron. Lancet 1993;341(8836):1-4. Lozoff B, Jimenez E, Wolf AW.[cdc.gov] Iron deficiency and cognitive function. Annu Rev Nutr 1993;13:521-37. Idjradinata P, Pollitt E.[cdc.gov]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Genee-Wiedemann Syndrome

    Wiedemann-Steiner syndrome results from a mutation in the MLL (also known as KMT2A ) gene on the long arm of chromosome 11 .[wiedemannsteiner.com] Estimates have been made for individuals with specific clinical presentations such as developmental delay/cognitive disability and autism spectrum disorders; in these phenotypes[nature.com] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.com]

  • Waisman Syndrome

    delay, cognitive impairment, macroencephaly, and, in some, seizures; EO parkinsonism with tremor appeared subsequently as the presenting symptom.[ng.neurology.org] […] phenotype in individuals with Down syndrome that includes significant delay in nonverbal cognitive development accompanied by additional, specific deficits in speech, language[onlinelibrary.wiley.com] The symptoms are similar: developmental delays gr oss and fine motor skill delays speech and language delays learning and behavior problems hyperextensible joints anxiety[fragilexfiles.com]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Autosomal Recessive Mental Retardation Type 5

    Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006 ; 140 : 2063 – 2074. 3.[cambridge.org] Maternal depression during pregnancy and postpartum has been shown to be associated with developmental delay in children at 18 months of age. [18] Children of mothers who[emedicine.medscape.com] Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet 2010 ; 11 : 161 – 187. 2. Rauch, A, Hoyer, J, Guth, S et al.[cambridge.org]

    Missing: Mutation in the MLL Gene
  • Early Infantile Epileptic Encephalopathy Type 23
    Missing: Mutation in the MLL Gene
  • Early Infantile Epileptic Encephalopathy Type 2

    Patients with a SYNGAP1 mutation have a developmental delay, cognitive regression and some patients have a autism.[molgen.ua.ac.be] developmental delay and intellectual disability.[ncbi.nlm.nih.gov] […] and motor development and often result in a devastating permanent global developmental delay and intellectual disability.[jmg.bmj.com]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Early Infantile Epileptic Encephalopathy Type 17

    […] featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy.[genecards.org] Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype[genecards.org]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Microphthalmia Type Lenz

    Dental examinations and cleaning should be instituted to monitor dental hygiene, especially when the affected individual has cognitive developmental delay.[ncbi.nlm.nih.gov] Institute regular dental examinations and cleaning should be instituted, especially when cognitive developmental delay is present; dental treatment as for the general population[ncbi.nlm.nih.gov] Approximately 22/35 of affected males have mild-to-severe intellectual disability or developmental delay [ Ng et al 2002 ]. Motor development may be delayed.[ncbi.nlm.nih.gov]

    Missing: Mutation in the MLL Gene