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1,161 Possible Causes for Autistic Features, Persistent Notochordal Canal, Small Optic Disc

  • Optic Atrophy-Intellectual Disability Syndrome

    disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl] 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]

  • Congenital Non-Progressive Ataxia

    Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] 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]

  • Isolated optic nerve hypoplasia

    An overgrowth of retinal pigment epithelium surrounding the small optic disc gives rise to the “double ring sign”.[pediatricneurologybriefs.com] 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] ONH is a nonprogressive congenital disc anomaly characterized by a small optic disc with a double-ring sign.[e-tjo.org]

    Missing: Persistent Notochordal Canal
  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] He presents with typical symptoms reported in the behavioural phenotype, autistic features and an overall deteriorating process, which fulfils the DSMIV criteria for dementia[ncbi.nlm.nih.gov] features. 5 – 8 However, perhaps the most striking effect of the 22q deletion is an approximately 30-fold increased risk of schizophrenia relative to the general population[ajnr.org]

    Missing: Persistent Notochordal Canal
  • Septo-Optic Dysplasia

    A case of septo-optic dysplasia was proved by demonstrating the absence of septum pellucidum, small optic discs and hypothalamic-pituitary dysfunction at the age of three[ncbi.nlm.nih.gov] Ophthalmoscopic examination showed a small pale optic disc in the right eye; the optic disc of the left eye was normal.[ncbi.nlm.nih.gov] Ophthalmoscopy showed bilateral small tilted hypoplastic optic discs with a temporal crescent in the right eye. There was no double-ring sign (Fig. 1).[journals.lww.com]

    Missing: Persistent Notochordal Canal
  • Knobloch Syndrome Type 1

    Nystagmus, strabismus, small optic discs, glaucoma, and cataracts have been reported. Poor vision and progressive loss of acuity are common.[disorders.eyes.arizona.edu] Features Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature Mental Retardation with Spastic Paraplegia Mental Retardation Wolff Type[rgd.mcw.edu] […] with or without Cardiac Defects 2 Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 3 Mental Retardation With Language Impairment And Autistic Features[preventiongenetics.com]

    Missing: Persistent Notochordal Canal
  • Warburg Micro Syndrome 3

    […] and pallor of optic disc.[omicsonline.org] Some children will eventually display autistic features. Although less common, seizures can also occur.[rarediseases.org] Despite early cataract surgery at one month of life, he had a severe visual impairment and fundus examination – as far as possible for small pupils – disclosed hypoplasia[omicsonline.org]

    Missing: Persistent Notochordal Canal
  • Primary Optic Atrophy

    […] amplitude horizontal pendular with latent 4 20/400 CF 5′ 0 1 Small, pale discs OU Full to Goldmann OU Orthophoric None 5 20/200 20/100 3 3 Diffuse optic atrophy OD OS Large[iovs.arvojournals.org] Obsessive-compulsive behavior and autistic features have been reported in a single individual. Hypotonia may be present.[disorders.eyes.arizona.edu] Optic nerve hypoplasia It is characterized by small optic disc affecting one or both eyes [Figure 3], [Figure 4], [Figure 5], [Figure 6].[ijri.org]

    Missing: Persistent Notochordal Canal
  • Rubinstein-Taybi Syndrome

    Right fundus of 37 year old female patient with Rubinstein-Taybi syndrome showing a pale and excavated optic disc and a small chorioretinal coloboma.[ncbi.nlm.nih.gov] In addition, some patients with low intelligence quotients and autistic features bear large deletions.[ncbi.nlm.nih.gov] Figure 4 Right fundus of 37 year old female patient with Rubinstein-Taybi syndrome showing a pale and excavated optic disc and a small chorioretinal coloboma.[bjo.bmj.com]

    Missing: Persistent Notochordal Canal
  • Optic Disc Drusen

    Optic disc drusen were significantly associated with small optic discs (p 0.001).[ncbi.nlm.nih.gov] In addition, she had NVD in both eyes with a small optic disc haemorrhage in the left eye. The retinas appeared normal in both eyes.[nature.com] disc. 10 Our previous study demonstrated a small optic disc as a risk factor for ODD, indicating that axonal distress can be a triggering factor. 10 Therefore, tumors involving[journals.lww.com]

    Missing: Autistic Features Persistent Notochordal Canal

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