Sitemap | Symptoma 30301 to 30400 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. ATP Synthase in Muscle, Heart, Liver, and Brain Decreased Mutation in the GNAS Complex Locus Gene Mutation in the Thymidine Phosphorylase Gene mtDNA Depletion Seen on Muscle Biopsy KID Syndrome and HID Syndrome Are Identical at the Molecular Level Variable Involvement of Palms and Soles Spiky Hyperkeratosis Death Usually Occurs in First Decade of Life Urine Thiosulphate Increased Increased Urinary Isobutyryl Glycine Cytochrome C Oxidase Deficiency in Skeletal Muscle and Brain Head Bobbing Fasting Triglycerides Elevated Nasopharyngeal Hairy Polyp Cleft of Cervical and Dorsal Vertebral Bodies Partial Synostosis between the Atlas and the Base of the Occiput Fusion of C2 and C3 Posterior Arches Hypoplastic and Slightly Abnormal Odontoid Process Incomplete Crista Galli with Small Ethmoidal Plate Dehiscence Cleft Ethmoid Bone Vomer Duplication Defects in Visual Cue Processing Defects in Auditory Cue Processing Caused by Mutation in the Enolase 3 Gene Enolase 3 Activity Decreased Muscle Biopsy Shows Glycogen Storage Symptoms Induced by Strenuous Exercise Mutation in the LDHA Gene Erythematous Squamous Skin Lesions Uterine Muscle May Be Stiff during Pregnancy Symptoms Usually Induced Only by Strenuous Exercise Pigmenturia Brisk Jaw Jerk Reflex Neuroaxonal Abnormalities Decreased Myelin Prominent Alveolar Ridge Atrioventricular Defect Toenail Hypoplasia Aged Appearance Reduced Skin Elasticity No Metabolic Abnormalities Clasped Thumb Long Digits Deoxyuridine Increased Palmar Telangiectasias Variable Brain Anomalies Clubbed, Thickened Nails of Halluces Vertical Creases of Plantar Surface between First and Second Toes Preaxial Polysyndactyly Anterior Cranium Bifidum Loss of Coordination Deterioration of Motor Development Short First Digits Asymmetric Shortening of Long Bones Renal Hypoplasia Poor Enamel Hypoplasia of the Alae Nasi Simple Ear Structure Edema of Dorsum of Hands and Feet Short Hands and Fingers Generalized Shortening of Long Bones Overcrowded Teeth Bow-Shaped Upper Lip Plasma Lactate Increased Gray Matter Appears Relatively Unaffected MR Spectroscopy Shows Decreased N-Acetyl-Aspartate Supratentorial Volume Decreased MRI Shows Global Lack of Myelination in the Cerebral Hemispheres Crawling and Standing Not Achieved Stable or Slowly Progressive Course Phenotype Indistinguishable from Congenital CMV Infection Mutation in the RNASET2 Gene No Evidence of Perinatal Infection Pericystic Abnormal Myelination Anterior Temporal Lobe Subcortical Cysts Sparing of Central White Matter Structures Multifocal White Matter Lesions Most Patients Achieve Walking with Aid Onset in Late Childhood or Early Teens Creatine Kinase Markedly Increased Stiff Spine Z-Disk Streaming Apoptotic Nuclei Severe Diffuse Muscle Weakness Toe Walking in Early Childhood Mutation in the BHLHB3 Gene Activity Period Increased Normal Sleep-Onset Time Earlier Sleep Offset Time - Earlier Awakening Neck Muscle Atrophy Mild Diastolic Dysfunction Mutation in the Synaptic Nuclear Envelope Protein 1 Gene Pes Metatarsus Varus Swan Neck Defect of the Finger Asymmetric Lower Limbs Hypoplastic Femora Fibular Agenesis or Hypoplasia Some Patients Do Not Have Thin Corpus Callosum Adult-Onset Decrease of Visual Acuity Adult Onset Retinal Degeneration
