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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