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435 Possible Causes for Pontine Hypoplasia

  • Familial Hypercholesterolemia

    And Cerebellar Hypoplasia 3 Mental Retardation With Language Impairment And Autistic Features 2 Mental Retardation, Autosomal Dominant 1 7 Mental Retardation, Autosomal Dominant[preventiongenetics.com] Meningioma, Familial 3 Menkes Kinky-Hair Syndrome 2 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 2 Mental Retardation And Microcephaly With Pontine[preventiongenetics.com]

  • Psychomotor Retardation

    These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis.[ncbi.nlm.nih.gov]

  • Horizontal Gaze Palsy with Progressive Scoliosis

    Cerebral Magnetic resonance imaging findings included pontine hypoplasia, absent facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft,[archive-ouverte.unige.ch] Cerebral magnetic resonance imaging (MRI) shows a typical pattern with butterfly configuration of the medulla, a deep midline pontine cleft, and pontine hypoplasia.[thieme-connect.com] MR imaging depicted brain-stem hypoplasia with absence of the facial colliculi, presence of a deep midline pontine cleft (split pons sign), and a butterfly configuration of[ncbi.nlm.nih.gov]

  • Hereditary Late-Onset Parkinson Disease

    N105/17) LONG QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE[neuromab.ucdavis.edu] AND CEREBELLAR HYPOPLASIA FG SYNDROME 4 MENTAL RETARDATION, X-LINKED, CASK-RELATED CASPR2 (K67/25) CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME AUTISM, SUSCEPTIBILITY TO, TYPE[neuromab.ucdavis.edu]

  • Waisman Syndrome

    […] syndrome 5 CA2 8q21.2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 CASK Xp11.4 FG syndrome 4 300422 Mental retardation and microcephaly with pontine[institutobernabeu.com] […] and cerebellar hypoplasia 300749 Mental retardation, with or without nystagmus 300422 Non-Hodgkin lymphoma, somatic 605027 CBS 21q22.3 Homocystinuria, B6-responsive and nonresponsive[institutobernabeu.com]

  • Muscular Dystrophy

    MRI findings include pontine and cerebellar hypoplasia, although 4 patients had no abnormalities. Muscle biopsy showed reduced a-dystroglycan glycosylation.[emedicine.medscape.com]

  • Progressive Myoclonic Epilepsy Type 7

    N105/17) LONG QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE[neuromab.ucdavis.edu] AND CEREBELLAR HYPOPLASIA FG SYNDROME 4 MENTAL RETARDATION, X-LINKED, CASK-RELATED CASPR2 (K67/25) CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME AUTISM, SUSCEPTIBILITY TO, TYPE[neuromab.ucdavis.edu]

  • Familial Infantile Myoclonic Epilepsy

    N105/17) LONG QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE[neuromab.ucdavis.edu] AND CEREBELLAR HYPOPLASIA FG SYNDROME 4 MENTAL RETARDATION, X-LINKED, CASK-RELATED CASPR2 (K67/25) CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME AUTISM, SUSCEPTIBILITY TO, TYPE[neuromab.ucdavis.edu]

  • Generalized Epilepsy with Febrile Seizures Plus

    N105/17) LONG QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE[neuromab.ucdavis.edu] AND CEREBELLAR HYPOPLASIA FG SYNDROME 4 MENTAL RETARDATION, X-LINKED, CASK-RELATED CASPR2 (K67/25) CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME AUTISM, SUSCEPTIBILITY TO, TYPE[neuromab.ucdavis.edu]

  • Dilated Cardiomyopathy Type 2B

    Paget disease with or without frontotemporal dementia 2 Kufor-Rakeb syndrome Leukoencephalopathy, diffuse hereditary, with spheroids Mental retardation and microcephaly with pontine[agdx.portal.cartagenia.com] And Cerebellar Hypoplasia 3 Mental Retardation With Language Impairment And Autistic Features 2 Mental Retardation, Autosomal Dominant 1 7 Mental Retardation, Autosomal Dominant[preventiongenetics.com] […] and cerebellar hypoplasia 300749 300172 X-linked dominant CASK Xp11.4 FG syndrome 4 300422 300172 CASQ1 1q23.2 Myopathy, vacuolar, with CASQ1 aggregates 616231 114250 Autosomal[mnglabs.com]

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