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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