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19 Possible Causes for Hypoplasia of Dentate Nucleus, Multiperforated Patent Foramen Ovale, Onset of Diabetes in Neonatal Period or Early Infancy

  • Adams-Oliver Syndrome Type 5

    From Wikidata Jump to navigation Jump to search syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs Adams Oliver syndrome Limb, scalp and skull defects Aos Congenital scalp defects with distal limb anomalies Limb scalp and skull defects[…][wikidata.org]

    Missing: Onset of Diabetes in Neonatal Period or Early Infancy
  • Wolcott-Rallison Syndrome

    Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy.[ncbi.nlm.nih.gov] nucleus NO Elbow dislocation NO Hypoplasia of the capital femoral epiphysis NO Exercise-induced muscle cramps NO Recurrent patellar dislocation NO Short middle phalanx of[playground.phenotips.org] Musculoskeletal Exercise-induced muscle fatigue NO Amelogenesis imperfecta NO Adducted thumb NO Joint laxity NO Calcaneovalgus deformity NO Dense calcifications in the cerebellar dentate[playground.phenotips.org]

    Missing: Multiperforated Patent Foramen Ovale
  • Atrial Septal Aneurysm

    ASA is considered a risk factor for cardioembolism, especially in association with patent foramen ovale.[ncbi.nlm.nih.gov] […] atrial septal aneurysm. ( 25553942 ) Ortiz C....Ramos B. 2015 12 Transient cerebral ischemia in an elderly patient with patent foramen ovale and atrial septal aneurysm. ([malacards.org] A meticulous search for interatrial shunting (most often patent foramen ovale (PFO)) and associated cardiac diseases is important.[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Onset of Diabetes in Neonatal Period or Early Infancy
  • Hypoaldosteronism

    Abstract BACKGROUND: Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy.[ncbi.nlm.nih.gov]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Friedreich Ataxia

    The neuropathology was also similar and included hypoplasia of spinal cord and dorsal root ganglia, loss of large axons in dorsal roots, and atrophy of the dentate nucleus[ncbi.nlm.nih.gov]

    Missing: Multiperforated Patent Foramen Ovale Onset of Diabetes in Neonatal Period or Early Infancy
  • Crossed Polysyndactyly

    Eunuchoid habitus Hypoplasia of the ovary Female hypogonadism Non-obstructive azoospermia Absence of pubertal development Phenotypic abnormality Abnormality of body height[mendelian.co] nucleus Hyperreflexia Optic atrophy Anteverted nares Blindness Glaucoma Photophobia Conductive hearing impairment Short foot Short palm Decreased testosterone in males Ataxia[mendelian.co] Lissencephaly Dysdiadochokinesis Global brain atrophy Thoracic kyphosis Dysmetria Abnormality of the neck Aplasia of the inferior half of the cerebellar vermis Atrophy of the dentate[mendelian.co]

    Missing: Multiperforated Patent Foramen Ovale Onset of Diabetes in Neonatal Period or Early Infancy
  • Helsmoortel-van der Aa Syndrome

    The causative gene in SCA21, TMEM240, is highly expressed in the cerebellum, dentate gyrus, putamen and caudate nucleus.[pediatricneurologybriefs.com] The authors note that another transmembrane protein (TMEM237) is involved in Joubert syndrome-related disorders, characterized by midbrain malformation with hypoplasia of[pediatricneurologybriefs.com]

    Missing: Multiperforated Patent Foramen Ovale Onset of Diabetes in Neonatal Period or Early Infancy
  • Autosomal Dominant Mental Retardation Type 21

    The causative gene in SCA21, TMEM240, is highly expressed in the cerebellum, dentate gyrus, putamen and caudate nucleus.[pediatricneurologybriefs.com] The authors note that another transmembrane protein (TMEM237) is involved in Joubert syndrome-related disorders, characterized by midbrain malformation with hypoplasia of[pediatricneurologybriefs.com]

    Missing: Multiperforated Patent Foramen Ovale Onset of Diabetes in Neonatal Period or Early Infancy
  • Amaurosis-Hypertrichosis Syndrome

    Types 1 and 2 have been distinguished, with the latter more common and severe, with onset in the neonatal period or in early infancy [ 47 ].[link.springer.com] Lipoatrophic diabetes and generalized congenital hypertrichosis are the main features of the syndrome.[link.springer.com]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Glutaric Aciduria

    NB T2-hyperintensity of pontine white matter and dentate nucleus (H). j - l Moderate hypoplasia involving the subcentral gyrus in late-onset patient p6 ( arrow in j ).[ojrd.biomedcentral.com]

    Missing: Multiperforated Patent Foramen Ovale Onset of Diabetes in Neonatal Period or Early Infancy