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884 Possible Causes for Autistic Features, Loss of Ambulation between Third and Sixth Decade, Persistent Notochordal Canal

  • Optic Atrophy-Intellectual Disability Syndrome

    Obsessive-compulsive behavior and autistic features have been reported in a single individual. Hypotonia may be present.[disorders.eyes.arizona.edu] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Limb-Girdle Muscular Dystrophy Type 2J

    notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Autistic Features
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    features Mental retardation X-linked, SMARCA1 related Mental retardation X-linked, syndromic, Claes-Jensen type Mental retardation X-linked, syndromic, Lubs type Mental retardation[qlinics.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] features – overall, highly variable (partly attributable to location of abnormal gene – chromosome 9 or 16) CNS correlate of skin lesions are cerebral tubers (“potato-like[brainaacn.org]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Congenital Non-Progressive Ataxia

    NMD, ID, SLI (with more severely affected expressive language), behavioural traits and autistic features.[jmg.bmj.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Behavioural problems and autistic features are common. Brain, cardiac and urogenital malformations can be associated.[jmg.bmj.com]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Isolated optic nerve hypoplasia

    The identification and measurement of autistic features in children with optic nerve hypoplasia, "isolated" hypopituitarism and varying combinations of septo-optic Dysplasia[etheses.bham.ac.uk]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Microdeletion 3q29 Syndrome

    The clinical features associated with a 3q29 microdeletion are variable and include developmental delay, autistic features, skeletal abnormalities and dysmorphic facial features[ncbi.nlm.nih.gov] However, the presence of autistic features in several individuals [ 1, 2 ] suggests that a deletion of 3q29 may be considered in individuals with autism.[dx.doi.org] Speech delay, autistic traits, chest-wall deformities, ungainly or ataxic gait, and long and tapering fingers were each described in at least two individuals.[dx.doi.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Rett Syndrome

    It is possible to identify the condition in girls presenting with mental retardation or autistic features if they are appropriately followed up.[ncbi.nlm.nih.gov] Transient presentation of many autistic features is also commonly seen in RTT.[ncbi.nlm.nih.gov] (hand washing, severe cognitive impairment with absence of language, ataxic gait, progressive scoliosis and autistic features).[ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • West Syndrome

    Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features.[ncbi.nlm.nih.gov] Autistic features were noted in four of the five examined patients post-operatively. None of the patients showed developmental regression following surgery.[ncbi.nlm.nih.gov] features can also occur as a long‐term outcome in children affected with this type of syndrome.[onlinelibrary.wiley.com]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Early Infantile Epileptic Encephalopathy Type 2

    Several individuals with EFMR have also been described as having autistic features.[oadoi.org] Autism Spectrum Disorder and/or autistic features were noted in six females from three of our families. Obsessive features were also prominent in our families.[dx.doi.org] They also have varying degrees of intellectual impairment along with the presence of autistic features.[oadoi.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Atypical Autism

    Includes: atypical childhood psychosis mental retardation with autistic features[mhreference.org] […] disorder (i.e., still having some autistic features subsequent to effective interventions and/or natural development) atypical Asperger's disorder : young children who have[aacap.org] […] with some "autistic features" The differential diagnosis between PDDNOS and other mental disorders can be a very challenging task for even experienced practitioners because[aacap.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal

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