28201 to 28300 most common queries

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

• 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
• Palpable Pyloric 'Olive'
• 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
• 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
• Progressive Generalized Skin Erosions
• 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, 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
• Branchial Pits
• Cleft Lobules
• Preaxial Polydactyly with Central Gap
• Pterygia of Elbows and Knees
• Mesomelia of the Lower Limbs
• Vertical Ischia
• Absent Labia Majora
• Mutation in the Pyridoxamine 5' Phosphate Oxidase Gene
• Cerebrospinal Fluid Pyridoxal 5'-Phosphate Decreased
• Cerebrospinal Fluid Pyridoxal Decreased
• Cerebrospinal Fluid Arginine Decreased
• Cerebrospinal Fluid Histidine Increased
• Cerebrospinal Fluid Taurine Increased
• Increased CSF Threonine
• Cerebrospinal Fluid 3-Methoxytyrosine Increased
• Urine Vanillactic Acid Increased
• Plasma Arginine Decreased
• Plasma Threonine Normal to Increased
• Plasma Glycine Normal to Increased
• Response to Pyridoxal Phosphate
• Partial Response to Pyridoxine
• Neonatal Epileptic Encephalopathy
• Thick, Maloriented Superior Cerebellar Peduncles
• Mutation in the CEP290 Gene
• No Cerebellar Vermis Aplasia or Hypoplasia
• Anomalous Origin of Right Pulmonary Artery
• Diabetes Mellitus Type 1 Developed in Some Patients
• 2:1 Female Preponderance
• Adult Onset Punctate Cortical Cataract
• Congenital Cataract (Nuclear, Sutural, or Stellate Cortical)
• Phenotype May or May Not Be Consistent within a Family
• Mutation in the Fukutin Gene
• Homozygosity: More Severe Phenotype
• Autosomal Recessive Inheritance Can Occur
• One Third of Cases Are Familial
• Benign Tumors of the Eye, Heart, and Lungs
• Subependymal Nodules
• Short, Dysplastic Ulnae
• Short Dysplastic Radii
• Severe Radial Bowing
• Severe Mesomelia - Only Arms
• Aberrant Origin of Vertebral Artery
• Rudimentary to Absent Tibia
• Irregular, Thin Ribs
• Mutation in the Ras Associated Protein RAB23 Gene
• Fingerprint Profiles (Ultrastructural Analysis)
• Caused by Mutation in the CLN2 Gene
• Mutation in the R Spondin Family Member 4 Gene
• Onset in Neonatal Period or Infancy
• Possibly Phosphate and Calcitriol Increased (Heterozygotes)
• Mutation in the GALNT3 Gene