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303 Possible Causes for Developmental Delay - Variable Severity

  • Glaucoma

    ., Peters anomaly Peters Plus syndrome : developmental delay, mild to severe ID, cleft lip, cleft palate Axenfeld-Rieger anomaly (anterior segment disorder) FOXC1 PITX2 AD[ncbi.nlm.nih.gov] Presents w/posterior embryotoxon & (variably) iris strands adherent to Schwalbe's line, iris hypoplasia, focal iris atrophy, & ectropion uveae.[ncbi.nlm.nih.gov]

  • Constitutional Megaloblastic Anemia due to Folate Metabolism Disorder

    Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning[malacards.org] , ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms[ncbi.nlm.nih.gov] Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]: An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe[genecards.org]

  • Waisman Syndrome

    , spasticity, epileptic seizures, progressive microcephaly, and severe developmental delay.[ncbi.nlm.nih.gov] BACKGROUND: Aicardi-Goutières syndrome (AGS) is a genetically determined early-onset encephalopathy with variable phenotype, including neurologic manifestations such as dystonia[ncbi.nlm.nih.gov]

  • Psychomotor Retardation

    BACKGROUND: Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation.[ncbi.nlm.nih.gov]

  • Generalized Clonic or Tonic-Clonic Seizures

    Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur.[mendelian.co] Affected individuals typically present with severe intrauterine growth retardation and microcephaly.[mendelian.co] The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004 ).[mendelian.co]

  • Dihydrofolate Reductase Deficiency

    Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning[malacards.org] […] neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy ({1:Banka et al., 2011}) to childhood absence epilepsy with learning difficulties[diseaseinfosearch.org] UniProt: Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD): An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe[selfdecode.com]

  • Kohlschütter-Tönz Syndrome

    All affected individuals show a psychomotor regression after onset of epilepsy or a developmental delay from birth on.[ncbi.nlm.nih.gov] Clinical course and disease severity are variable even within families. There are no known biochemical or other diagnostic markers of the condition.[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 2

    Severe mental retardation [ more ] 0010864 Neonatal onset 0003623 Severe global developmental delay 0011344 Spastic paraplegia 0001258 Spastic tetraplegia 0002510 Status[rarediseases.info.nih.gov] Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J. Med.[nature.com] […] epilepticus Repeated seizures without recovery between them 0002133 Tremor Tremors 0001337 Variable expressivity 0003828 Showing of 24 Last updated: 5/1/2019 Making a diagnosis[rarediseases.info.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 6

    The clinical phenotypes of this condition are variable; some patients were asymptomatic while some may present with developmental delay or autistic features.[ncbi.nlm.nih.gov] In severe cases, patients may present with profound neurological deficit including hypotonia, seizures and mental retardation.[ncbi.nlm.nih.gov]

  • Hepatosplenomegaly

    A pigmentary retinopathy with variable severity is often present. The disc may be elevated and appears swollen.[disorders.eyes.arizona.edu] Systemic Features: Mild to severe developmental delays are common and mental retardation has been reported in some cases.[disorders.eyes.arizona.edu]

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