Sensorineural hearing impairment, and Nystagmus

Diseases related with Sensorineural hearing impairment and Nystagmus

In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Nystagmus that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Vertigo
  • Vestibular hypofunction


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B

Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.

CORNEAL DYSTROPHY-PERCEPTIVE DEAFNESS SYNDROME Is also known as cdpd1|harboyan syndrome|corneal dystrophy with progressive deafness|cdpd|corneal dystrophy and sensorineural deafness

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Visual impairment
  • Photophobia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORNEAL DYSTROPHY-PERCEPTIVE DEAFNESS SYNDROME

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL

Other less relevant matches:

High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME

Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

SPINOCEREBELLAR ATAXIA TYPE 31 Is also known as sca31|spinocerebellar ataxia, 16q22-linked

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 31

Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE

A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE

Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements.

SPINOCEREBELLAR ATAXIA TYPE 37 Is also known as sca37|spinocerebellar ataxia with altered vertical eye movements

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 37

Low match TIETZ SYNDROME

Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.

TIETZ SYNDROME Is also known as hypopigmentation-deafness syndrome|tietz syndrome|hypopigmentation/deafness of tietz|albinism-deafness of tietz

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Photophobia
  • Telecanthus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TIETZ SYNDROME

SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k|charcot-marie-tooth disease type 4k|surf1-related cmt4|charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k|surf1-related severe demyelinating charcot-marie-to

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Nystagmus

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Photophobia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Bilateral sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Sensorineural hearing impairment and Nystagmus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Horizontal nystagmus

Rare Symptoms - Less than 30% cases

Tremor Truncal ataxia Cerebellar atrophy Gait ataxia Dyschromatopsia Neurological speech impairment Sensory impairment Gait disturbance Cognitive impairment Dysarthria Visual impairment Rod-cone dystrophy Visual loss Blindness Reduced visual acuity Vertigo Progressive visual loss Scanning speech Decreased nerve conduction velocity Cogwheel rigidity Cerebellar vermis atrophy Dysdiadochokinesis Diffuse cerebellar atrophy Limb dysmetria Abnormal conjugate eye movement Frequent falls Distal muscle weakness Falls Clumsiness Abnormality of skin pigmentation Unsteady gait Axonal loss Dysmetria Abnormality of eye movement Myoclonus Dysphagia Motor axonal neuropathy Central scotoma Optic neuropathy Scotoma Telecanthus Albinism Hypopigmentation of the skin Abnormal anterior chamber morphology Kyphoscoliosis Acidosis Lactic acidosis Areflexia Distal sensory impairment Dystonia Skeletal muscle atrophy Muscle weakness White eyebrow White eyelashes Red hair Congenital sensorineural hearing impairment Hypopigmentation of the fundus White hair Generalized hypopigmentation Increased serum lactate Fair hair Blue irides Peripheral demyelination Hypopigmentation of hair Premature graying of hair Easy fatigability Difficulty walking Constriction of peripheral visual field Migraine with aura Abnormality of mitochondrial metabolism Myopia Hyporeflexia Hyperreflexia Spasticity Generalized hypotonia Albuminuria Profound hearing impairment High myopia Hematuria Proteinuria Conductive hearing impairment Intellectual disability Sensory neuropathy Retinal atrophy Abnormal retinal morphology Visual field defect Progressive hearing impairment Macular degeneration Nyctalopia Congenital corneal dystrophy Corneal dystrophy Opacification of the corneal stroma Corneal opacity Vestibular hypofunction Babinski sign Limb ataxia Exotropia Abnormality of retinal pigmentation Optic disc pallor Peripheral axonal neuropathy Pallor Hypertrophic cardiomyopathy Cardiomyopathy Optic atrophy Strabismus Phonophobia Dysphasia Hemiplegia/hemiparesis Hemiplegia Hemiparesis Impaired vibratory sensation Pigmentary retinopathy Migraine Nausea Abnormality of movement EEG abnormality Headache Vomiting Seizures Gaze-evoked horizontal nystagmus Hyperactive deep tendon reflexes Brisk reflexes Demyelinating peripheral neuropathy


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