Sitemap | Symptoma 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
