×
This website uses cookies to ensure you get the best experience on our website.
Privacy
Okay
Any Age
years old
years
Any Age
Newborn
Toddler
Child
Teenager
Adult
Senior
Any Sex
31301 to 31400 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Cerebrospinal Fluid Sepiapterin Elevated
Cerebrospinal Fluid 5-Hydroxyindoleacetic Acidin Decreased
Sepiapterin Reductase Deficiency (Fibroblasts)
Dystonia with Diurnal Variation
Long, Narrow Palpebral Fissures
Choroidoretinal Degeneration
Stippled Pigmentation
Mild Hearing Impairment
Small Intestinal Septum
Jejunal Web
Stenosis of Common Bile Duct
Dilated Intrahepatic Bile Ducts
Portal Inflammation
Large Duct Obstruction
Liver Biopsy: Ductal Proliferation
Obstructive Liver Disease
Four Cases Have Been Reported - All Female
Hypertrophy of Branches of the Hepatic Artery
Pruritus Secondary to Liver Disease
Broad Nasal Fossae
Prominent Trapezius Muscles
Hypertrophy of First Ray
Proximal Megaepiphysis of Metatarsal Bones
Molding Disturbance of Metacarpal Bones
Polydactyly Type A
Long Bones Have Thin Cortices
Variable Fever
Tetanus-Like Muscle Contractions
Neck Muscle Hypertonia
Large Face
Facial Trismus
Severe Contractions of the Facial Muscles
Mutation in the SDHAF2 Gene
Variable Cognitive Function
Mutation in the GAMT Gene
Guanidinoacetate Methyltransferase Deficiency
Accumulation of Guanidinoacetate in Brain
Deficiency of Creatine Phosphate in Brain
Cerebrospinal Fluid Creatinine Decreased
Cerebrospinal Fluid Creatine Decreased
Extremely Low Creatine Excretion
Speech Development Absent or Limited
Developmental Delay or Regression
Thickening of the Lower Alveolar Ridge
Malnutrition due to Poor Feeding
Speech Difficulties due to Hypoglossia
Onset of Seizures in First Months of Life
No Hypertension
Hypomyelination of Sural Nerve
Some Patients Do Not Achieve Ability to Walk
Mutation in the TMEM142A Gene
Defective Enamel Development
Partial Iris Hypoplasia
Immunoglobulin Levels Normal
T Cell Proliferative Response Impaired
T-Cell Activation Impaired
Nonprogressive Myopathy
Defective Platelet Adhesion with Normal Platelet Count
Defective Neutrophil Adhesion to Endothelial Cells
Alopecia Usually Occurs around Puberty
Variable Age at Onset - Infancy to Adulthood
Alopecia Beginning in the Occiput
Perifollicular Inflammatory Infiltrate
Follicular Hyperkeratotic Papules
DHEA Sulfotransferase below Limit of Detection
Dehydroepiandrosterone at Upper Level of Normal Range
Androstenedione and Testosterone Increased
Precocious Osteoarthropathy
Mild Metaphyseal Changes of Knees and Hips
Short and Bowed Legs
Mutation in the Forkhead Box C1 Gene
Iris Strands Attached to Schwalbe Line Bridging the Iridocorneal Angle
Schwalbe Line - Posterior Embryotoxon
Anteriorly Displaced Eyes
Patchy Reticular Stains
Thick, Loose, Doughy Skin
Thickened Subcutaneous Tissue
Macrocephaly, Progressive in Infancy
Asymmetric Somatic Overgrowth
Dilated Venous Sinuses
Thickened Optic Nerve Sheath
Cortical Dysgenesis
Crowding of the Posterior Fossa
Cerebellar Tonsil Herniation
Progressive Enlargement of Cerebellum
MRI Shows Brain Asymmetry
Penetrance Reduced
Average Age at Onset 19 Years
Mutation in the THAP Domain Containing Protein 1 Gene
Dystonia (Upper and Lower Limbs)
Jaw Dystonia
Dystonia of Trunk and Limbs (Arms and Legs)
Platelet Aggregation Decreased
Body Height Decreased
Blood Pressure Normal
Onset of Essential Tremor between 16 and 44 Years
Central Translucency of Distal Phalanges of Thumbs
Cognitive Decline in Older Patients
Caused by Mutation in the CLN5 Gene
Mutation in the GAN Gene