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1,972 Possible Causes for Persistent Notochordal Canal, Phenylketonuria, Small Optic Disc

  • Optic Atrophy-Intellectual Disability Syndrome

    Syndrome Ouvrier Syndrome Pallister-Killian Mosaic Syndrome Periventricular Leukomalacia Peroxisome Biogenesis Disorder Phelan McDermid Syndrome/22q 13 Deletion Syndrome Phenylketonuria[bladderbowel.gov.au] 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] 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]

  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] […] of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia[rarediseases.org] Other findings included posterior embryotoxon (69%), isolated corneal nerves (3%), sclerocornea (3%), deep iris crypts (10%), tortuous retinal vessels (58%), small optic nerves[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Congenital Non-Progressive Ataxia

    Pelizaeus Merzbacher Pelizaeus Merzbacher-like Peraganglioma / pheochromocytoma Periventricular Heterotopia Peters plus syndrome Peutz Jeghers syndrome Pfeiffer syndrome Phenylketonuria[igenomix.us] 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] 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]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    El-Hattab and Majid Alfadhel, 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects, Pediatric Neurology, 10.1016/j.pediatrneurol.2019.02.008[doi.org] 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] TY - JOUR T1 - 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.[wwww.unboundmedicine.com]

    Missing: Small Optic Disc
  • Alpha-B Crystallinopathy

    pyruvoyl-tetrahydropterin synthase deficiency 7p22.1 microduplication syndrome 8q21.11 microdeletion syndrome 9p13 microdeletion syndrome 9q31.1q31.3 microdeletion syndrome[se-atlas.de] […] round white spots in the posterior pole of the eye, including the areas of the macula and optic disc, appearing in early adult life 4 Fleck retina of Kandori, caused by mutations[centogene.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]

  • Blue Diaper Syndrome

    Conclusion Blue diaper syndrome and phenylketonuria are both inborn errors of amino acid metabolism.[www-personal.umd.umich.edu] Some infants may have eye abnormalities including underdevelopment (hypoplasia) of the optic disc, abnormal eye movements, and an abnormally small cornea (microcornea), the[rarediseases.org] Other complications may include the following: Eye defects including underdeveloped optic discs, abnormal eye movements, and an abnormally small cornea Kidney stones due to[dovemed.com]

    Missing: Persistent Notochordal Canal
  • Knobloch Syndrome Type 1

    Pelizaeus-Merzbacher Disease (PMD) Pendred Syndrome Periventricular Heterotopia Peters Plus Syndrome Peutz-Jeghers Syndrome (PJS) Pfeiffer Syndrome Phelan-McDermid Syndrome Phenylketonuria[corp.credoreference.com] Nystagmus, strabismus, small optic discs, glaucoma, and cataracts have been reported. Poor vision and progressive loss of acuity are common.[disorders.eyes.arizona.edu] Pyruvoyl-Tetrahydropterin Synthase Deficiency 2 Aarskog Syndrome 4 ABCD Syndrome 1 Aceruloplasminemia 2 Acetylation, Slow 1 Acheiropody 1 Achondrogenesis Type 2 3 Achondrogenesis[preventiongenetics.com]

    Missing: Persistent Notochordal Canal
  • Classical Phenylketonuria

    ), PHENYLKETONURIA, PKU, PKU - Phenylketonuria, phenylalaninemia, phenylketonuria (diagnosis), phenylketonuria, Phenylalaninemia, Phenylketouria, Phenylketonuria - pku, Phenylketonurias[fpnotebook.com] The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat. 2007 Sep;28(9):831-45. Review. What you need to know about ... phenylketonuria.[ghr.nlm.nih.gov] People with PKU can enjoy all the pleasures of life and show little symptoms as long as they abide by their strict diet. - Types of Phenylketonuria Edit Maternal Phenylketonuria[drustapbio.wikia.com]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Maple Syrup Urine Disease

    Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected[ncbi.nlm.nih.gov] METHODS: A total of 370 dried blood spots (DBS) from healthy neonates, 44 DBS specimens from phenylketonuria neonates, and 38 DBS samples from 10 MSUD patients were retrospectively[ncbi.nlm.nih.gov] All 50 states screen newborns for phenylketonuria (PKU). Most states also test newborns for galactosemia.[webmd.com]

    Missing: Persistent Notochordal Canal Small Optic Disc
  • Spontaneous Abortion

    It also includes herbicides, fungicides, and various other substances used to control pests. phenylketonuria (PKU) an inherited disorder in which the body cannot process a[womenshealth.gov] After two months, fundus examination showed a small and crowded optic disc on the right and a pale optic disc on the left.[ncbi.nlm.nih.gov] On the sixth day, optic disc oedema regressed bilaterally and on the third week, the visual acuity improved to 20/80 in the left eye.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal

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