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28301 to 28400 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Arachnoid Cysts
Decreased IQ
Distal Joint Contractures
Dystrophic Changes (Biopsy)
Stiff, Hyperextended Neck
Flat Pons
Patients May Only Achieve Sitting or Walking
One Patient with Normal Cognition Has Been Reported
Mutation in the POMT1 Gene
Hypotonia at Birth
Possibly No Structural Brain Abnormalities
Widened Anterior Fontanelles
Dysplastic Cerebellum
Mutation in the Fukutin Related Protein Gene
Retinal Pigmentary Changes
Absence of the Cerebellar Vermis
Severely Delayed Motor Development
Caused by Mutation in the Fukutin Gene (FKTN 607440-0009)
Only Walking Achieved
Hypermetropia (MEB)
Muscle Hypertrophy
Diffuse White Matter Changes (MEB)
Periventricular White Matter Changes
Aplasia of the Corpus Callosum - Encephalocele
Smooth Thin Cortical Mantle
Pancreatic Agenesis or Hypoplasia
Mild Vision Impairment
Mutation in the PPIB Gene
White to Gray Sclerae
Homozygosity with More Severe Phenotype
Dystrophic Fingernails and Toenails
Flexed Toes
Reticulocyte Count Low to Normal
Variable T-Cell Dysfunction
Dyschromatopsia
Decreased Activity of Cytochrome C Oxidase Seen on Muscle Biopsy
Variation in Fiber Size Increased (Muscle Biopsy)
Mutation in the Homolog of the Mouse MPV17 Gene
Total and Conjugated Bilirubin Increased
Mitochondrial DNA Depletion in Liver Tissue
Later Onset Can Also Occur
Progressive Vision Loss Type 1
Some Patients May Have a Milder Phenotype
Not Responsive to Steroid Treatment
Early Death without Kidney Transplant
End Stage Renal Failure in First Decade
Caused by Mutation in the Nephrin Gene
Enlarged Placenta
Loss of Podocyte Foot Processes
Glomerulosclerosis and Fibrosis
Mesangial Cell Proliferation
Biopsy Shows Dilated Proximal Tubules
Recurrent Intermittent Fever
Onset of Joint Contractures Later in Life
Onset of Lipodystrophy Later in Childhood
Atypical Mononuclear Cells with Many Mitoses
Mononuclear Cell Infiltrates
Frostbitten Hands
Dry Stiff Skin
Lesions Predominantly on Face and Limbs
Residual Hyperpigmentation
Lesions Become Purpuric
Annular Erythematous, Edematous Plaques
Erythematous Nodular Skin Lesions
IL-8 Increased
IL-6 Increased
Interferon-γ Increased
Severe Foot Contractures
Severe Toe Contractures
Severe Hand Contractures
Severe Finger Contractures
Antinuclear Autoantibodies
Periorbital Swelling Due to Violaceous Plaques on the Eyelids
Loss of Facial Subcutaneous Fat
Lipodystrophy Generalized Panniculitis Induced
Nemaline Bodies on Gomori Trichrome Staining
Neurogenic Changes Later in Disease Seen on EMG
Myopathic Changes (Early Symptom, EMG)
Mutation in the NDUFA9 Gene
Normal Face at Birth
Variable Findings in Muscle Biopsy
Fiber Hypertrophy Type 2
Some Patients Only Achieve Sitting
Thin Hands with Long Fingers
Possibly Myotonic Discharges (EMG)
Myofibrillar Disorganization
Lipid Droplet Accumulation
Subsarcolemmal Mitochondrial Accumulation
Possibly Rhabdomyolysis
Mitochondrial Respiratory Chain Complex I II and III Defect
Mutation in the Cystatin B Gene
Mutation in the NHLRC1 Gene
Mutation in the EPM2A Gene
Approximately One Third of Patients Become Seizure Free with Age
Seizures Precipitated by Fatigue or Alcohol
Seizures upon Awakening
Mean Age at Onset is 10.4 Years
Possibly Status Epilepticus
Favorable Response to Ephedrine Treatment
Hypoplastic Left Ventricular Outlet