All individuals with variants in gene QRSL1

3 entries on 1 page. Showing entries 1 - 3.
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00100428 - - - F yes Turkey - - - - - CMH - 1 1 Rick Kamps
00301725 17-2764 PubMed: Maddirevula 2019 - M - - - - - - - ? spastic diplegia, cognitive impairment, deafness and episodes of encephalopathy. Brain MRI revealed progressive and extensive abnormal signal involving the deep gray matter structures including the hypothalami, medial aspect of the thalami, basal ganglia and substantia nigra in a symmetric fashion most consistent with Leigh disease. Diffusion restriction in the midbrain lesions suggestive of acute disease. Lactic acid in blood fluctuated between high and high normal. There is positive family history of a similarly affected sister. 1 1 Johan den Dunnen
00328831 - PubMed: D'Gama 2021 - M no - - - - - - neuropathy, optic Neonatal respiratory distress (HP:0002643); Nasogastric tube feeding in infancy (HP:0011470); Horizontal nystagmus (HP:0000666); High hypermetropia (HP:0008499); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Infantile axial hypotonia (HP:0009062); Limb hypertonia (HP:0002509); Ataxia (HP:0001251); Choreoathetosis (HP:0001266); Focal T2 hypointense basal ganglia lesion (HP:0012752); Focal hyperintensity of cerebral white matter on MRI (HP:0040328); Decreased thalamic volume (HP:0012695); Short stature (HP:0004322); Macrocephaly (HP:0000256); High palate (HP:0000218); Wide intermamillary distance (HP:0006610); Reduced tendon reflexes (HP:0001315); Oral-pharyngeal dysphagia (HP:0200136); Lactic acidosis (HP:0003128); Elevated lactate:pyruvate ratio (HP:0032653); Developmental regression (HP:0002376); Increased size of nasopharyngeal adenoids (HP:0040261); Bilateral tonic-clonic seizure (HP:0002069); Focal-onset seizure (HP:0007359); Interictal epileptiform activity (HP:0011182); EEG with generalized slow activity (HP:0010845); 1 1 Aude Rocatcher
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