respiratory infections Respiratory tract infection Abnormality of the cerebral white matter Abnormality of eye movement Neuronal loss in central nervous system Abnormality of the periventricular white matter Emotional lability Hyperkinesis Astrocytosis [mendelian.co]

taste sensation Recurrent candida infections Increased serum zinc Sensorineural hearing impairment Cognitive impairment Hyperreflexia Muscular hypotonia of the trunk Abnormal bleeding Alopecia of scalp Adducted thumb Abnormality of the coagulation cascade [mendelian.co]

overgrowth Macule Lipodystrophy Global brain atrophy Hypermelanotic macule Abnormal retinal morphology Areflexia Spastic tetraplegia Hyporeflexia Abnormality of the foot Impaired T cell function Paronychia Low alkaline phosphatase Decreased taste sensation [mendelian.co]

METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis [mendelian.co]

opacity CNS hypomyelination Pneumonia Breech presentation Heparan sulfate excretion in urine Microvesicular hepatic steatosis Delayed speech and language development Renal tubular acidosis Tics Hypoventilation Hyperkalemia Dementia Synophrys Renal cyst [mendelian.co]

Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. [mendelian.co]

stiffness Developmental regression Tetraparesis Status epilepticus Congenital onset Renal hypoplasia Hyperammonemia Fasciculations Irritability Generalized tonic-clonic seizures Death in infancy Dystonia Hepatosplenomegaly Tongue fasciculations Sleep [mendelian.co]

contracture Strabismus Joint stiffness Developmental regression Tetraparesis Status epilepticus Congenital onset Renal hypoplasia Hyperammonemia Fasciculations Irritability Generalized tonic-clonic seizures Death in infancy Dystonia Hepatosplenomegaly [mendelian.co]

[…] stagnation Ovoid thoracolumbar vertebrae Pallor Dense calvaria Nystagmus Abnormal facial shape Blindness Inguinal hernia Midface retrusion Hernia Absent speech Mandibular prognathia Visual loss Feeding difficulties in infancy Retinal degeneration Lower limb hyperreflexia [mendelian.co]

In some cases, pyramidal signs (generalized hyperreflexia and positive Babinski sign) are observed. [orpha.net]

Microcephaly is often present and there may a profound delay in psychomotor development with truncal hypotonia and hyperreflexia in the limbs. Brain imaging shows generalized atrophy with decreased myelination. [disorders.eyes.arizona.edu]

Cardioembolic infarction was defined to include atrial fibrillation, intracardiac thrombus or tumor, rheumatic mitral stenosis, prosthetic valves, endocarditis, sick sinus syndrome, left ventricular aneurysm or akinesia after acute myocardial infarction [stroke.ahajournals.org]

Four Clinical Cases Who Mentally Deteriorated 1. A 25-year-old female was referred with severe chronic pain due to fibromyalgia. She claimed undertreatment for at least three years which interfered with her promising career. [practicalpainmanagement.com]

speech and language development Renal tubular acidosis Tics Hypoventilation Hyperkalemia Dementia Synophrys Renal cyst Hepatic steatosis Respiratory failure Failure to thrive in infancy Chronic kidney disease Hyperactivity Hyponatremia Increased CSF [mendelian.co]

hypotonia and lactic acidosis. [mendelian.co]

Clinical manifestations include autonomic failure (orthostatic hypotension, syncope, respiratory disturbances (sleep apnea, stridor and inspiratory sighs), constipation, bladder dysfunction (early urinary incontinence), erectile dysfunction in males and [orpha.net]