Neuromuscular disease and ocular or auditory anomalies with or without seizures
- Synonyms
- NEUROMUSCULAR OCULOAUDITORY SYNDROME
Clinical features
Help- Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Epicanthus
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Knee flexion contracture
Knee flexion contracture
- MedGen UID: 98042
- Concept ID: C0409355
- Finding: Finding
Abnormality of limbs
- Clubfoot
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the eye
- Chorioretinal lacunae
Chorioretinal lacunae
- MedGen UID: 375497
- Concept ID: C1844751
- Finding: Finding
Abnormality of the eye
- Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
- MedGen UID: 347513
- Concept ID: C1857644
- Finding: Finding
Abnormality of the eye
- Slow saccadic eye movements
Slow saccadic eye movements
- MedGen UID: 232942
- Concept ID: C1321329
- Finding: Finding
Abnormality of the eye
- Chorioretinal lacunae
- Abnormality of the genitourinary system
- Multiple renal cysts
Multiple renal cysts
- MedGen UID: 140917
- Concept ID: C0431718
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Reduced renal corticomedullary differentiation
Reduced renal corticomedullary differentiation
- MedGen UID: 813461
- Concept ID: C3807131
- Finding: Finding
Abnormality of the genitourinary system
- Multiple renal cysts
- Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
Calf muscle hypertrophy
- MedGen UID: 335868
- Concept ID: C1843057
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: myopathic abnormalities
EMG: myopathic abnormalities
- MedGen UID: 867362
- Concept ID: C4021726
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle fiber necrosis
Muscle fiber necrosis
- MedGen UID: 376893
- Concept ID: C1850848
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Poor head control
Poor head control
- MedGen UID: 322809
- Concept ID: C1836038
- Finding: Finding
Abnormality of the musculoskeletal system
- Wrist flexion contracture
Wrist flexion contracture
- MedGen UID: 592338
- Concept ID: C0409345
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Decreased amplitude of sensory action potentials
Decreased amplitude of sensory action potentials
- MedGen UID: 870496
- Concept ID: C4024943
- Finding: Finding
Abnormality of the nervous system
- Decreased nerve conduction velocity
Decreased nerve conduction velocity
- MedGen UID: 347509
- Concept ID: C1857640
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Peripheral hypomyelination
Peripheral hypomyelination
- MedGen UID: 870480
- Concept ID: C4024927
- Finding: Finding
Abnormality of the nervous system
- Periventricular heterotopia
Periventricular heterotopia
- MedGen UID: 1766888
- Concept ID: C5399973
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Sensory axonal neuropathy
Sensory axonal neuropathy
- MedGen UID: 334116
- Concept ID: C1842587
- Finding: Finding
Abnormality of the nervous system
- Unsteady gait
Unsteady gait
- MedGen UID: 68544
- Concept ID: C0231686
- Finding: Finding
Abnormality of the nervous system
- Areflexia
- Abnormality of the respiratory system
- Aspiration
Aspiration
- MedGen UID: 751786
- Concept ID: C2712334
- Finding: Finding
Abnormality of the respiratory system
- Respiratory distress
Respiratory distress
- MedGen UID: 96907
- Concept ID: C0476273
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Aspiration
- Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Simple ear
Simple ear
- MedGen UID: 140913
- Concept ID: C0431483
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
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