Sitemap | Symptoma 29701 to 29800 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Lissencephaly - Posterior to Anterior Gradient Learning Difficulties in Affected Females Distal Spasticity Intractable Neonatal Seizures No Development Temperature Regulation Impaired Some Females Are Affected Auditory Impairment Caused by Mutation in the Fumarylacetoacetase Gene Mutation in the CUL7 Gene Short Disproportionate Stature - Short-Trunked Severe Streptococcus Pneumoniae Infections in Most Patients Life Threatening in Infancy due to Sepsis Recurrent Severe and Invasive Bacterial Infections Severe Epilepsy May Lead to Early Death Features like Migraine - Seizures - Psychiatric Disorders Occur in Adolescence Onset at Age 6 to 18 Months Complex I Activity Decreased Uncontrolled Rage Stroke-Like Lesions Brain MRI Shows Lesions Consistent with Epileptic Episodes Atrophy of the Posterior Columns and Spinocerebellar Tracts Mitochondrial DNA Depletion in Brain Tissue Brain Stem Atrophy Hypergonadotrophic Hypogonadism Age at Onset: 1-47 Years Saccadic Pursuit Upper Limb Involvement May Occur Shallow Indolent Cutaneous Ulcers Restricted Range of Movement in Some Joints Hypermobile Joints Mesodermal Iris Dysgenesis Subluxated Thumbs Fusion of Metacarpal Bones Hypoplastic Fibula Hypoplastic Tibia Deformity of the Distal Extremity of the Humerus Hip Subluxation Ossification of the Skull Delayed Pseudoarthrosis of the Clavicle Hypoplastic Clavicle Group A Patients Die in the First Years of Life Subcortical Leukodystrophy Mutation in the LHX4 Gene Mutation in the Beta-1,3-Glucosyltransferase Gene Successful Treatment with Oral Isotretinoin S Epidermidis Only Microorganism Isolated Small Areas of Alopecia Scalp Sinus Formation Suppurative Scalp Nodules C-Peptide and Glucagon Levels Measurable Genetic Heterogeneity - See Autosomal Recessive Osteopetrosis Type 1 Mutation in the Collagen 1 Alpha 1 Polypeptide Gene Mutation in the C20ORF7 Gene See for an Autosomal Dominant Form Early Exhaustion on Exertion Low Physical Performance Chronic Course with Exacerbations and Remissions Mutation in the ISCU Gene Low Maximal Oxygen Uptake on Exercise Testing Muscle Mitochondrial Aconitase Decreased Muscle Succinate Dehydrogenase Decreased Abnormal Mitochondria in Skeletal Muscle Biopsy Muscles Become Hard and Tender during Exercise Premature Exertional Muscle Weakness EM Shows Degenerated Mitochondria Excessive Neutral Fat and Free Fatty Acids in Type 1 Fibers Histochemically Normal Type 2 Muscle Fibers Interfibrillar and Subsarcolemmal Vacuoles Neck and Proximal Limb Muscle Myopathy Renal Failure Not in All Patients Death Occurs 10-20 Years after Onset Smell Sense Defect Odor Blindness Discrete Anosmia Mutation in the Collagen VI Alpha-3 Polypeptide Gene Congenital Non-Progressive Myopathy Small Sella Turcica Lethal Mutation in the CHRNG Gene Hypoplastic Heart Microbrachydactyly Congenital Bone Fusions Generalized Amyoplasia Caused by Mutation in the Biotinidase Gene Caused by Mutations in the Galactosamine-6-Sulfatase Gene Mutation in the MTTS2 Gene Mutation in the MMTN Gene Mutation in the Methylmalonyl CoA Mutase Gene Ischemic Stroke in the Basal Ganglia Mutation in the AUH Gene Type 2 Is Progressive and Leads to Shortened Lifespan Myelination Defects Spasticity Type 2 Opisthotonos (Type II) Mutation in the SIL1 Gene Skeletal Deformities due to Severe Myopathy and Hypotonia Dense Membranous Structure Surrounding Nuclei on Electron Microscopy Necrotic and Regenerating Fibers Autophagic, Rimmed Vacuoles
