45901 to 46000 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Peroneal Nerves Show Severely Reduced CMAPs
• Onset of Night Blindness during Adolescence
• Muscle Weakness Following Prolonged Exercise
• Unusual Cabbage-Like Odor
• Pyruvate Kinase Decreased
• Moderate Oligospermia
• Urinary Tract Dilatation
• Oral Blistering
• 55-200 Expanded Trinucleotide Repeats in the FMR1 Gene
• Mean Male Adult Height 184.3 cm
• Central Balding
• Tight Glistening Facial Skin
• Short Odontoid
• Fissuring of Palms and/or Soles in Hot or Cold Weather
• Trypanosoma Cruzi
• Unilaterally Thin Zygomatic Arch
• Sensory Nerve Conduction Velocity Mildly Decreased or Normal
• Cholecystolithiasis
• Sensorineural Hearing Loss Associated with ELSTs
• Severe Oligospermia
• Abnormal Blood Coagulation Studies (Prolonged PT and PTT)
• Genetic Heterogeneity (see CMS1A1)
• Adult Height Often Normal
• Onset in Fifties or Sixties
• Onset of Kyphosis in Childhood
• Prevalent Among Individuals of East Asian Descent
• Absent or Hypoplastic Paranasal Sinuses
• Thick Calluses on Soles of Feet
• Orbital Diameter Unilaterally Decreased
• Post-Adolescent Long Narrow Face
• Taenia Solium
• Absorption of Dietary Fat Decreased
• Large Anteverted Nasal Tip
• Endolymphatic Sac Tumors (ELSTs)
• Dislocated Cervical Spine Fracture
• Mutation in the CHAT Gene
• Length ≥97th Percentile through Early Adolescence
• Hepatic Transaminases Increased
• Caused by Mutation in the Lipase N Gene (LIPN)
• Onset of Cataracts in Late Adolescence
• Trinucleotide Repeat Expansion in the FMR1 Gene
• Mutation in the Tau Tubulin Kinase 2 Gene
• Low-Normal Platelet Count in Carrier Females
• IQ Decreased
• Combined Deficiency of Pancreatic Lipase and Colipase
• Sweating of Palms and Soles Decreased
• Triangular Shaped Ears
• Allelic to Neurofibromatosis Type 1
• Wide Clavicles
• Joint Subluxation
• Sudden Severe Episodic Apnea May Cause Death
• Mean Full Term Birth Length 55.2 cm
• Plasma and Urine Succinylacetone Increased
• Intracellular FMR Protein Decreased
• Onset after Third Decade
• Mild Reticulocytosis in Carrier Females
• Three Affected Sibs Reported
• Pancreatic Colipase Absent or Reduced
• Slight Erythema of Face
• Cognitive Dysfunction
• Cervical Radiculopathy
• Abnormal Ear Configuration
• Allelic to Ellis-Van-Creveld Syndrome
• Albumin Increased
• Intracellular FMRP mRNA Increased
• Congenital Vesicles on Fingers and Soles
• Deficient Hepatic 4 Hydroxyphenylpyruvate Dioxygenase
• Progressive Proximal Muscle Involvement
• UDP Galactose 4 Epimerase Deficiency in Circulating Blood Cells Only
• Mental Retardation Likely due to Neonatal Hypoxia
• Mutation in the VAPB Gene
• Normal Platelet Aggregation
• Speech Never Acquired
• Fine Whitish Scales Over Entire Surface of Skin
• Mutation in the Zinc Finger SWIM Domain Containing Protein 6
• Pancreatic Lipase Absent or Reduced
• Cervical Disc Space Narrowing
• Autosomal Recessive Form Has Also Been Described
• Expressionless Facial Appearance
• Congenital Facial Milia Especially on Chin
• Fumarylacetoacetate Hydrolase Deficiency
• Positron Emission Tomography Abnormal
• Caused by Mutations in the UDP-Galactose-4-Epimerase Gene
• Contractures
• Majority Are Isolated Cases
• Dopa-Responsive Rigidity
• FMR1 mRNA-Positive Inclusions in Neurons and Astrocytes
• Diffuse Lamellar Ichthyosis
• Alpha : Beta Globin Ratio in Reticulocytes Increased
• See Also DA2B Which Is an Allelic Disorder
• Severe Upper Airway Obstruction
• Diarrhea Worsens as Severity of Skin Disease Increases
• Pancreatic Exocrine Deficiency
• Cervix Erosion
• Mutation in the 4-Hydroxyphenylpyruvate-Dioxygenase Gene
• Screaming
• Lack of Epidermal Ridges on Palms and Soles
• Mutations in the UDP-Galactose-4-Epimerase Gene
• A Contiguous Gene Deletion Syndrome Caused by Deletion
• Mutation in the Survival of Motor Neuron 1 Gene