Specialists may include an otologist, an audiologist, a speech-language pathologist, a clinical geneticist, and a genetic counselor. Support groups are also good resources of support and information. [diseaseinfosearch.org]

Congenital cataracts cover a broad spectrum of severity: whereas some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment. Congenital cataracts may be unilateral or bilateral. [en.wikipedia.org]

Affected individuals also develop progressive visual impairment due to optic atrophy and sensorineural hearing loss beginning in childhood. [mendelian.co]

Impairment, and Psychomotor Retardation; OMIM:602197 Cerebellar Degeneration-Related Autoantigen 3 OMIM:213000 Cerebellar Hypoplasia OMIM:213002 Cerebellar Hypoplasia with Endosteal Sclerosis OMIM:213010 Cerebellar Vermis Aplasia with Associated Features [informatics.jax.org]

Strabismus Generalized hypotonia Coronary artery atherosclerosis Resting tremor Apathy Mutism Premature ovarian insufficiency Ventricular fibrillation Dysphonia Chronic obstructive pulmonary disease EMG: myopathic abnormalities Exercise intolerance Diplopia [mendelian.co]

Diseases related with Seizures and Progressive hearing impairment In the following list you will find some of the most common rare diseases related to Seizures and Progressive hearing impairment that can help you solving undiagnosed cases. [mendelian.co]

A five-generation family with hereditary hearing impairment associated with cochleosaccular degeneration has recently been identified. [karger.com]

Lalwani AK et al. () A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. [ ] 10. [moldiag.com]

This may be the simple explanation for the observed high-frequency hearing impairment in DFNA17. VI. [studfiles.net]

Review the patterns of hearing loss in hereditary hearing impairment. [anyflip.com]

1992 : A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait. [wwe.geoscience.net]

DISEASE: Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]. [pathwaycommons.org]

Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]. [abcam.com]

Macrothrombocytopenia and progressive sensorineural deafness (MPSD) [MIM:600208]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. [rbcc.hegelab.org]

People with this disorder have progressive hearing loss as well as progressive cataracts. The type of hearing loss is sensorineural and is due to the breakdown overtime to parts of the cochlea. [diseaseinfosearch.org]

hearing loss, variable vestibular dysfunction, and variable onset of retinitis pigmentosa.[112] Within each subtype, there is genetic heterogeneity, and numerous subtypes are recognized, although the two most common forms are US type 1B (USH1B) and US [anyflip.com]

insufficiency External ophthalmoplegia Ophthalmoplegia Myalgia Edema Hypertension Cerebral cortical atrophy Myopathy Tics Myoclonus Tremor Cardiomyopathy Diabetes mellitus Encephalopathy Cognitive impairment Rare Symptoms - Less than 30% cases Depressivity [mendelian.co]

Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin JT, Francis R, Tansey T, Henry C, Wang B, Lemley B, Pazour GJ, Lo CW [Clinical picture and pathogenesis of Jacksonian seizures in cerebral arteriovenous aneurysms]. Bova VE [medicbind.com]

Clinical Findings Disorder Macro-thrombo-cytopenia Leukocyte inclusions Nephritis Sensorineural deafness Cataract May-Hegglin anomaly Dohle bodies Sebastian syndrome Epstein syndrome Fechtner syndrome Nonsyndromic sensorineural deafness 17 Symptoms Deafness [moldiag.com]

Laryngoscope 114:10851091.Mhatre AN, Kim Y, Brodie HA, et al. (2003) Macrothrombo-cytopenia and progressive deafness is due to a mutation inMYH9. [myslide.es]

Mhatre AN, Kim Y, Brodie HA, et al. (2003) Macrothrombo-cytopenia and progressive deafness is due to a mutation inMYH9. Otol Neurotol 24:205209. [docslide.net]

[…] anaemia with excess Wilson Turner mental retardation hypopigmentation GAN type 2 Metatropic dwarfism blasts syndrome Mental retardation X-linked Coarse face hypotonia constipation Neuropathy giant axonal Metatropic dysplasia 2 RAEB syndromic 6 Refractory cytopenia [yumpu.com]