46301 to 46400 most common queries

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

• Jejunal Web
• Intraocular Pressure Low
• Loss of Sensation of the Posterior Thigh
• Antepartum Maternal Status
• Low Output Cardiomyopathy
• Mutation in the Collagen II Alpha 1 Polypeptide Gene
• Deformities of the Calyceal System
• Mutation in the Neurexin 1 Gene
• Collagen Fibrils Dispersed in Reticular Dermis
• Only Upward Growing Eyebrows
• Beta Galactosidase Activity Decreased
• Inappropriate Chewing Behavior
• Progressive Prepubertal Onset Retinitis Pigmentosa
• Long Nose with Bulbous Tip
• Mutation in the ERCC5 Gene
• Stenosis of Common Bile Duct
• Generalized Hypotonia
• Self-Harming Behaviors
• Neurobehavioral Manifestation
• Acylcarnitines Increased
• Thin Collagen Bundles
• Narrowing of the Ureteropelvic Junctions
• Dappling Greater in Ulna than Radius and Fibula Greater than Tibia
• Diffuse Posterior Synechiae
• Blepharophimosis
• Profound Congenital Sensorineural Hearing Loss
• Increased Tolerance to Pain
• Mild Anterior Beaking of Lumbar Vertebrae
• Afipia Felis
• Anomalous Optic Disc
• No UV-Induced Skin Tumors
• Dilated Intrahepatic Bile Ducts
• Onset of Seizures in Infancy or Early Childhood
• Sleep-Wake Cycle Disturbed
• Cognitive Deficit
• Anterior Openbite Malocclusion
• Fine Collagen Fibers, Predominant in Reticular to Papillary Dermis
• Club-Shaped Proximal Femurs
• Variable Degree of Angle Closure
• Slowly Progressive Limb Girdle Myopathy
• Severely Compromised Expressive Language Development
• Hypoplastic Bicornate Uterus
• Parinaud Conjunctivitis
• No Cherry Red Spot
• Abnormal Sensitivity to UV-B Radiation
• Recurrent Subcutaneous Infections with Fistula Formation
• Liver Biopsy: Ductal Proliferation
• Lack of Independent Ambulation
• Extrahepatic Duct Involvement
• Intraoral Frenula
• Continuous Spike Waves during Slow Wave Sleep
• Respiratory Abnormalities
• Irregular, Sclerotic Metaphyses
• Retrognathic Mandibular Position
• Absent or Delayed Speech Development
• Avascular Conjunctival Cystic Elevations
• Number of Skin Folds Increased
• No Splenomegaly
• Caused by Mutation in the Plakophilin 2 Gene (PKP2)
• Mild Cutaneous Changes
• Epileptic Encephalopathy
• Cat Scratch
• Two Patients Required Liver Transplantation
• Renal Mesangiolipidosis
• Generalized Epiphyseal Delay (Infancy)
• Hyperalgesia to Pressure
• Centrotemporal Spike-and-Slow-Waves
• See Also CblC
• Worsening of Hand Weakness with Cold
• Mutation in the Tumor Associated Calcium Signal Transducer 2 Gene
• Constitutional Karyotype Normal
• Ectopia Lentis Spherophakia
• Hip Replacement in Early Adulthood
• No Hepatomegaly
• Dry Hair
• Wrist Pain
• Developmental Regression after the First Year
• Onset in Third Decade
• Delayed Pubic Bone Ossification
• Secondary Seizures
• Fragile Skin with Atrophic Scarring
• Four Cases Have Been Reported - All Female
• Responsive to Vitamin B12
• Raised Yellowish Gray Gelatinous Masses
• Volar Wrist Thickening
• Onset of Joint Pain in Childhood
• Platelet Size Normal
• Compound Muscle Action Potentials Decreased
• All Cases Presumed De Novo Mutation
• No Seizures
• Tightly Curled or Wooly Hair
• Dwarfism - Short Trunk, Short-Limbed
• Mutations in the ANKH Gene
• Anaphylaxis
• Mutation in the PSMC3 Interacting Protein Gene
• Progressive Talipes Valgus and Planus
• Auricular Meatal Atresia
• Foreign Body Sensation (Early Symptom)
• Reticulate Pigmented Skin Abnormalities
• Hypoplastic or Dysplastic Toes (3rd-5th)