oculopharyngodistal myopathy 3

Conductive hearing impairment

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perceptio...

Otic

Dysphagia

Difficulty in swallowing....

Digestive, Neurological

Limb muscle weakness

Reduced strength and weakness of the muscles of the arms and legs....

Limbs

Neck muscle weakness

Decreased strength of the neck musculature....

General

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....

Otic

Tremor

An unintentional, oscillating to-and-fro muscle movement about a joint axis....

Neurological

Weakness of facial musculature

Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....

Head and Neck

Autosomal dominant progressive external ophthalmoplegia

Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...

Brown-Vialetto-van Laere syndrome 2

Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene....

Morimoto-Ryu-Malicdan neuromuscular syndrome

Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...

congenital myopathy 10b, mild variant

congenital myopathy 10b, mild variant is a medical condition that may be associated with various symptoms and ...

myasthenic syndrome, congenital, 1B, fast-channel

A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-o...

progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 is a medical cond...