33301 to 33400 most common queries

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

• Dysarthria, Dysphonia, or Cough Precede Onset of Ataxia
• Most Children Become Wheelchair Bound
• Mutation in the GJA12 Gene
• Loss of White Matter
• Mild to Moderate Mental Impairment
• Poor Head and Trunk Control in Infancy
• Febrile Illness May Precipitate Attacks of Weakness
• Allelic Disorder to Primary Erythermalgia
• Episodic Skin Flushing Associated with Pain
• Episodic Reddish Discoloration Associated with Pain
• Episodic Rhinorrhea
• Episodic Ocular Pain
• Episodic Epiphora
• Episodic Rectal Pain Triggered by Defecation
• Autonomic Reflex Asystolic Syncopal Events
• Episodic Burning Pain
• Onset of Periodic Paralysis - 8 Months to 15 Years
• Bidirectional Ventricular Ectopy
• QTc Prolonged
• Copper-Beaten Skull
• Condylar Resorption
• Elongated Roots with Open Apices
• Stature (< 10th Percentile)
• Absent Second Finger
• Asymmetric Radial Dysplasia
• Stapedial Reflex Absent
• Hypotension May Occur Late in Disease due to Salt Wasting
• Cysts May Be Absent in Over 50% of Patients
• Renal Uric Acid Clearance Impaired
• Worsened by Immunosuppressive Therapy
• Frequent Skin Cancer
• Onset in Middle Age
• Keratoatrophoderma
• Gonadal Mosaicism May Occur
• Infants Show Normal Size and Appearance
• Small Irregular Carpals
• Severe Osteoarthropathy
• Limitations of Joint Function
• Lens Suspensory Ligament Abnormal
• Pseudoexfoliation of Lens
• Onset of Symptoms 2-4 Weeks of Age
• Male-to-Female Ratio: 4-4.5:1
• Most Common Form of Bowel Obstruction in Infancy
• Visible Gastric Peristalsis
• Palpable Pyloric 'Olive'
• Nonbilious Projectile Vomiting
• Risk of Leukemia Increased
• Enamel Discoloration
• Screwdriver Permanent Incisors
• Good Social Contacts
• Muscular Weakness and Poor Growth Following Fever in Infancy
• Death in Teens Secondary to Cardiac Failure
• Dry, Scaly Skin
• Phalanges Expanded with Widened Medullary Cavities
• Nonspecific Muscle Fiber Atrophy
• Hypoplasia of Tooth Buds
• Most Common Autosomal Dominant Spastic Paraplegia
• Genetic Heterogeneity - See Senior-Løken Syndrome Type 1
• Caused by Mutation in the IQ Motif-Containing Protein B1 Gene
• Mutation in the FGD4 Gene
• Microdeletion Is Approximately 1.5 Mb in Length
• Subtelomeric Deletion of 3q29
• Universal Alopecia
• Disconnection of Keratin Intermediate Filaments from Desmosomes
• Suprabasal Clefting
• Progressive Generalized Skin Erosions
• Mitten Deformity
• Phimosis due to Epidermolysis
• Mature Adipocytes Surrounded by Edematous Interstitial Component
• Mature Adipose Tissue Enveloped in Collagenous Fibrous Sheaths
• Mutation in the CFH Gene
• Qualitative Complement Factor H Deficiency
• Complement Factor H Decreased
• Depletion of Components of the Alternative Complement Pathway
• Continuous Activation of the Alternative Complement Pathway
• Deposition of Complement Component C3 in Glomerular Basement Membrane
• Thickening of the Glomerular Basement Membrane on Renal Biopsy
• Severe to Profound Sensorineural Hearing Loss
• Caused by Mutation in the TRIO- and F-Actin-Binding Protein
• Thick Coarse Hair
• Thick, Arched Eyebrows
• Hypertrichosis (Back, Arms, Legs)
• Broad Finger Tips
• Thick Short Corpus Callosum
• Abnormal or Absent Meibomian Glands
• Poor Corneal Tear Film
• Progressive Thinning of Scalp Hair
• Balanced Translocation Carrier 46XY, +(11:18)(p13:q21)mat
• Clinodactyly of 2nd-4th Finger
• Branchial Pits
• Cleft Lobules
• Aberrant Skin Dimples (Elbows and Knees)
• Undulate Ribs
• Preaxial Polydactyly with Central Gap
• Pterygia of Elbows and Knees
• Mesomelia of the Lower Limbs
• Vertical Ischia
• Prominent Sacrum
• Absent Labia Majora
• Mutation in the Pyridoxamine 5' Phosphate Oxidase Gene