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40001 to 40100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Mutations in the Interleukin 2 Receptor Gamma Chain Gene
Number of CD8+ T Cells Decreased
Normal Number of Natural Killer Cells
Paucity of Lymphoid Tissue
Arthralgia in Middle-Aged Carrier Females
Mild Epiphyseal Irregularities
Hypoplasia of Capital Femoral Epiphyses
Osteoarthritis - Back Hip Knee
Final Adult Height: 131-156 cm
Broad Thorax
Lingual Pits (Maxillary Anterior Teeth)
Mutation in the WAS Gene
Transient Eczema
Mean Platelet Volume Decreased
Intermittent Thrombocytopenia
Women May Be Mildly Affected
Symptoms Begin Focally, Later Segmental or Generalized
Described Mainly in Families from the Philippines
Onset in Fourth Decade
Spasmodic Eye Blinking
Levodopa Responsive Parkinsonism
Chorea Ballism
Focal Tremor
Short Webbed Neck
Duane Syndrome
Sensorineural, Conductive, or Mixed Hearing Loss
Bilateral Striatal Lucencies on Imaging
Bulbar Dysfunction
Variable Age at Onset (Birth to Adulthood)
Mitochondria with Paracrystalline Inclusions
Abnormal Mitochondria with Disorganized and Vacuolated Cristae
Muscle Shows Lipid Accumulation
Activity of Complex I and Complex IV Decreased
Weakness of Orbicularis Oculi Muscles
Lesions In The Caudate and Putamen
Mean Age at Resolution of Symptoms Is 10 Years
Mean Age at Onset 5 Years
Cardiomyopathy (CVS+)
Exercise Intolerance (CVS+)
Strabismus (CVS+)
Gastrointestinal Dysmotility
Pervasive Developmental Disorder (CVS+)
Attention Deficit Hyperactivity Disorder (CVS+)
Interictal Periods of Normal Health
Rapid Complete Resolution of Symptoms
Peak Frequency of Vomiting: Every 10 to 15 Minutes
Usually during the Night or Early Morning
Rapid Onset
Some Pedigrees Are Consistent with Autosomal Dominant Inheritance
Single Mitochondrial DNA Deletions in Sporadic KSS Patients
Onset at Age <20
Serum and Muscle Coenzyme Q Decreased
Cerebrospinal Fluid Folic Acid Decreased
Diffuse Signal Abnormality of Central White Matter
Onset at 1-70 Years of Age
Mutation in the MTAP6 Gene
Mutation in the Cytochrome C Oxidase III Gene
Mutation in the MTCO1 Gene
Mutation in the Complex I Subunit ND5 Gene
Mutation in the MTND4L Gene
Mutation in the MTND4 Gene
Caused by Mutation in the Complex I Subunit ND1 Gene
Nonspecific Myopathy
Optic Atrophy - Chronic Phase
Swelling of Retinal Nerve Fiber Layer in Acute Phase
Circumpapillary Telangiectatic Microangiopathy
Central Retinal Vessel Vascular Tortuosity
Centrocecal Scotoma
Spastic Dystonia
Multiple Sclerosis-Like Illness
Caused by Mutations in the Mitochondrial ATP Synthase 6 Gene
Muscle Mitochondria Normal by Histochemical Analysis
No Histochemical Evidence of Mitochondrial Myopathy
Sluggish Pupils
Early Salt and Pepper Retinopathy
Death within 12 Months
Rapid Progression
Mutation in the Prion Protein Gene
Brainstem May Show Neuronal Loss
Thalamic Neuronal Loss especially in the Medial Dorsal Nucleus
Dream Enactment
Progressive Sleep Impairment
Refractory Insomnia
Good Response to Vitamin D Treatment
1,25-Dihydroxyvitamin D3 Normal
Calcium Low to Normal
Enlargement of Ankles
Enlargement of the Wrists
Metaphyseal Fraying
Deformed Rib Cage
Enlargement and Bulging of the Costochondral Junction
High Frequency of Levodopa-Induced Dyskinesias
Symptoms Improve Following Sleep
Caused by Mutations in the Parkin Gene (PARK2)
No Lewy Bodies
Neuronal Loss in the Locus Ceruleus
Neuronal Loss and Gliosis in the Substantia Nigra Pars Compacta
No Dementia
Diurnal Fluctuations of Symptoms
Possibly Hyperreflexia