Create issue ticket

39 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Migraine, Retinitis Pigmentosa

  • AMACR Deficiency

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines.[ghr.nlm.nih.gov] Classification genetic, hepatic, metabolism, neurological Phenotypes Ataxia ; Autosomal recessive inheritance ; Depressivity ; Dysarthria ; Hypergonadotropic hypogonadism ; Migraine[m.mousephenotype.org]

  • Usher Syndrome Type 1H

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Chorea Huntington like2 (JPH3) JPH3 8 Denatorubropallidoluysiale Atrophie (DRPLA)(ATN1) ATN1 9 Episodic Ataxia, Type 2 (EA2) (OMIM )(OMIM ) CACNA1A 10 Familial Hemiplegic Migraine[docplayer.net] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] Keep a healthy diet and you could reduce the risk of serious illness Read our diet tips 25 Apr 2018 The benefits of acupuncture Could acupuncture help with your headaches, migraines[aviva.co.uk] LXXIX The Association of Nerve Deafness and Retinitis Pigmentosa Interval Report . Annals of Otology, Rhinology & Laryngology, Vol. 69, Issue. 4, p. 1044.[journals.cambridge.org]

  • Familial Progressive Vestibulocochlear Dysfunction

    Sensorineural hearing loss is usually congenital, severe to profound and non-progressive. However, hearing loss may be later onset and progressive in some patients.[asperbio.com] Vestibular Migraine is also known as migraine vestibulopathy , migraine associated vertigo or migraine related dizziness.[migraine.ie] About 1 in 4 with retinitis pigmentosa has Usher's syndrome. The other major cause of deafness and blindness is congenital rubella.[patient.info]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] The mutation is in a gene also associated with episodic ataxia and some forms of migraine.[verywell.com] , often hemiplegic migraine).[neuroweb.us]

  • Retinitis pigmentosa 40

    Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] In contrast to ophthalmic migraine, the photopsia in RP is rather continuous than episodic.[institut-vision.org] Abstract Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is[ncbi.nlm.nih.gov]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset.[ncbi.nlm.nih.gov] […] dis or ders; migraine with aura; migraine with out aura Gene Set From GAD Gene-Disease Associations genes associated with the disease migraine dis or ders; migraine with[amp.pharm.mssm.edu] Learn more Other less relevant matches: Low match RETINITIS PIGMENTOSA Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors[mendelian.co]

  • Autosomal Recessive Deafness 38

    […] born with profound congenital deafness.[vdocuments.site] Cortical spreading depression produces the clinical symptoms of migraine? Migraine as a "calcium channelopathy" is an appealing notion. Ophoff RA, Cell 1996;87:543-552.[vdocuments.site] pigmentosa.[antibodies-online.com]

  • Hereditary Hyperekplexia

    Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized[amp.pharm.mssm.edu] The most important imitators of epileptic seizures are dizziness, vertigo, syncope, complicated migraine; and somewhat less frequently sleep disorders, transient cerebral[books.google.de] pigmentosa-1) RP2 (Retinitis pigmentosa-2) RP9 (Retinitis pigmentosa-9) RPE65 (Leber congenital amaurosis 2) RPGR (Cone-rod dystrophy-1) RPGRIP1 (Cone-rod dystrophy 13) RPGRIP1L[en.praenatal-medizin.de]

  • Tricho-Retino-Dento-Digital Syndrome

    Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Ears]; Bilateral congenital profound sensorineural hearing loss; [Mouth]; Diastema; [Teeth]; Oligodontia Ehlers-Danlos[findzebra.com] […] ataxia CACNA1A Episodic ataxia 2 CACNA1A Hemiplegic migraine, coma, cerebellar atrophy CACNA1A Hemiplegic migraine with cerebellar signs CACNA1A Hemiplegic migraine CACNA1A[springer.com] Retinitis Pigmentosa 31 4 Retinitis Pigmentosa 33 5 Retinitis Pigmentosa 35 5 Retinitis Pigmentosa 36 4 Retinitis Pigmentosa 37 5 Retinitis Pigmentosa 38 5 Retinitis Pigmentosa[preventiongenetics.com]

Similar symptoms