28301 to 28400 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• 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
• Double Subaortic Ventricular Defect