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1,353 Possible Causes for Cerebellar Hypoplasia, Learning Disabilities

  • Dandy-Walker Syndrome

    Up to half of affected individuals have intellectual disability that ranges from mild to severe, and those with normal intelligence may have learning disabilities.[en.wikipedia.org] hypoplasia, hydrocephalus, and posterior fossa cyst formation.[medical-dictionary.thefreedictionary.com] 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]

  • CHARGE Syndrome

    A large proportion of children with CHARGE syndrome have some degree of learning disability but this can be variable.[gosh.nhs.uk] Finally, we report cerebellar vermis hypoplasia in 35% of CHARGE syndrome patients with a proven CHD7 mutation.[ncbi.nlm.nih.gov] Delayed speech and language are common due to a combination of causes such as hearing impairment, learning disability, cleft lip and palate or oral motor dysfunction.[mun-h-center.se]

  • Congenital Non-Progressive Ataxia

    Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging.[ncbi.nlm.nih.gov] Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia.[ncbi.nlm.nih.gov] In the Human PAX6 Allelic Variant Database, one of the three cases with S119R mutation had a learning disability and behavioral change; one of the 20 cases with c.1267dupT[molvis.org]

  • Mental Retardation

    learning disabilities.[patient.info] hypoplasia) or with neuronal migration disorders (e.g. lissencephaly, micropolygyria, double cortex, and ventricular nodular heterotopia) that can be assessed by neuroimaging[dx.doi.org] Neuro-imaging findings showed thin corpus callosum in 9 patients, mild ventriculomegaly in 3 patients and variable degrees of cerebellar vermis hypoplasia in 4 patients, a[ncbi.nlm.nih.gov]

  • Dyskeratosis Congenita

    Disorders affecting the mouth and gums Infertility Learning disabilities or delays Abnormalities of the eyes Joint degeneration Risk factors In most cases, dyskeratosis congenita[stanfordchildrens.org] hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov] disabilities or delays Abnormalities of the eyes Joint degeneration When should I call my child's healthcare provider?[nationwidechildrens.org]

  • Aprosencephaly and Cerebellar Dysgenesis

    Fragile X Syndrome August 28, 2018 by Peter Ciszewski Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities[checkrare.com] This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[en.wikipedia.org] disabilities, and mental retardation.[clinicalgate.com]

  • Down Syndrome

    In the United Kingdom, the psychiatry of learning disability is a specialty in its own right, but people with learning disabilities outside the UK may be under the care of[doi.org] As demonstrated in a mouse model, DS is associated with cerebellar hypoplasia and a decreased number of cerebellar granule neuron progenitor cells (CGNPs) in the external[ncbi.nlm.nih.gov] Structurally evident abnormalities include: cerebellar and vermian hypoplasia Moyamoya syndrome Alzheimer disease developing in virtually all patients older than 40 years[radiopaedia.org]

  • Hoyeraal-Hreidarsson Syndrome

    disability - Intrauterine growth retardation - Microcephaly - Purpura / petichiae - Short stature / dwarfism / nanism - Thrombocytopenia / thrombopenia - X-linked recessive[csbg.cnb.csic.es] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and[ncbi.nlm.nih.gov]

  • Alpers Syndrome

    Children can have both learning disabilities and developmental disabilities due to mitochondrial disease.[childneurologyfoundation.org] HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE Strabismus, nystagmus, hypotelorism, deep-set eyes XLR OPHN1 #300486 MERRF SYNDROME Optic atrophy, pigmentary retinopathy Mitochondrial[eyewiki.aao.org] , delayed bone age, osteopenia, hypocholesterolemia, high ML-CL/L4-CL ratio Dysmorphic Full cheeks, deep set eyes, prominent ears Developmental Delayed motor milestones, learning[jpccs.jp]

  • Neuronal Ceroid Lipofuscinosis

    The less severe phenotype was observed in patient IV-19, a 7 year-old female with visual loss since she was six years-old and mild learning disability.[scielo.br] […] ataxia-deafness-narcolepsy syndrome Cerebellar neuroblastoma Cerebellar syndrome - pigmentary maculopathy Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia[csbg.cnb.csic.es] Mild neurologic symptoms then appear, often manifesting as learning disabilities, hypotonia, and hyporeflexia.[ncbi.nlm.nih.gov]

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