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