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6,351 Possible Causes for All Reported Mutations Have Occurred De Novo, Mild to Severe Intellectual Disability, Pediatric Disorder

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

    Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord.[familydiagnosis.com] Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements[checkorphan.org] intellectual disability, severely reduced muscle tone ( hypotonia ), impaired reflexes, vision impairment, and involuntary eye movements.[rarediseases.info.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Simpson Dysmorphia Syndrome

    Turk J Pediatr 2010;52: 525-528.[turkishjournalpediatrics.org] […] to severe intellectual disability.[rarediseases.info.nih.gov] You’ll benefit from unique, global perspectives on adult and pediatric endocrinology prepared by an international team of renowned authorities.[books.google.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Cerebro-Costo-Mandibular Syndrome

    A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] The delays can be mild, moderate or severe. Severe delays may be related to more severe health problems overall.[rarediseases.org]

  • Oculocerebrorenal Syndrome

    Detlef Bockenhauer and Robert Kleta, Renal Fanconi Syndromes and Other Proximal Tubular Disorders, Pediatric Kidney Disease, 10.1007/978-3-662-52972-0_32, (883-904), (2017[doi.org] […] to severe intellectual disability, stereotypic hand movements, renal dysfunction of the Fanconi type (proximal tubular acidosis; phosphate wasting leading to renal rickets[orpha.net] Rena Okawa, Shuhei Naka, Kanae Saga and Kazuhiko Nakano, Lowe syndrome oral findings: Case report, Pediatric Dental Journal, 26, 1, (34), (2016).[doi.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Shwachman Syndrome

    Loading metrics Figures Citation: Church JA (2006) A Pediatric Genetic Disorder Diagnosed in Adulthood. PLoS Med 3(1): e15.[journals.plos.org] Mild or severe intellectual disability (50% of patients) causes learning difficulties.[orpha.net] Joseph A Church, A Pediatric Genetic Disorder Diagnosed in Adulthood, PLoS Medicine, 10.1371/journal.pmed.0030015, 3, 1, (e15), (2006).[doi.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Helsmoortel-van der Aa Syndrome

    Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] […] to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics.[ncbi.nlm.nih.gov]

  • Migraine

    […] mechanisms that may explain the association between the two disorders, and the effects of treatment.[ncbi.nlm.nih.gov] Some may even develop permanent difficulty coordinating movements, rapid, involuntary eye movements called nystagmus and mild to severe intellectual disability, according[livescience.com] Clin Pediatr Phila 2000; 39: 267–74 PubMed CrossRef Google Scholar 33. Milla PJ. Motility disorders in childhood.[doi.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Appendicitis

    […] and pregnant patients to spare ionizing radiation Abdominal CT scan in adults or pediatric patients without a diagnostic US Differential PID, ovarian torsion, gyn disorders[step2.medbullets.com] 2013 Borderline Mild Moderate Severe Profound Idiopathic intellectual disability 77 102.5 (65·24%) 94 680·0 (61·47%) 3822·3 (38·30%) 4666·7 (31·46%) 32 937·9 (21·38%) 38[ncbi.nlm.nih.gov] National estimates of hospital utilization by children with gastrointestinal disorders: analysis of the 1997 kids' inpatient database. J Pediatr 2004 ; 144 :589–594.[doi.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Dandy-Walker Syndrome

    NORD (National Organization for Rare Disorders). Retrieved 2020-01-06. Yüceer N, Mertol T, Arda N (2007).[en.wikipedia.org] Almost one-fifth had a mental illness diagnosis; only 6.4% had mild or severe intellectual disability.[ncbi.nlm.nih.gov] About 50% of affected individuals have mild to severe intellectual disability, and those with normal intelligence may suffer with learning disabilities of various grades.[xpertdox.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Coxa Vara

    Abstract Developmental coxa vara (DCV) is a well-known pediatric hip disorder that is associated with triplanar deformity of the proximal femur.[ncbi.nlm.nih.gov] […] stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.[ncbi.nlm.nih.gov] : Diagnosis of Bone and Joint Disorders Vol V, Saunders 1995, ISBN 0-7216-5071-6 External links[edit] Classification D ICD-10: M21.1, Q65.8 ICD-9-CM: 736.32, 755.62 MeSH:[en.wikipedia.org]

    Missing: All Reported Mutations Have Occurred De Novo