32601 to 32700 most common queries

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

• Episodic Erythrocyte Sedimentation Rate Increase
• Episodic Arthralgia
• IL6 Increased - Episodic
• Episodic Polymorphonuclear Leukocytosis
• Myalgia Episodic
• Episodic Conjunctivitis
• Progressive Late Onset Sensorineural Deafness
• Caused by Mutation in the Bestrophin 1 Gene (BEST1 607854-0020)
• Reduced Electroretinogram Becoming Extinguished in Older Patients
• Chronic Angle-Closure Glaucoma in Older Patients
• Nanophthalmos if No Staphyloma
• Posterior Staphyloma in Most Eyes
• Peripheral Retinal Pigment Epithelium Atrophy
• Fundus Dystrophy
• Vitreous Fibrillar Condensation
• Punctate White Opacities in the Retina
• Onset of Night Blindness during Adolescence
• Sensorineural Hearing Loss Associated with ELSTs
• Endolymphatic Sac Tumor
• Allelic to Neurofibromatosis Type 1
• Allelic to Ellis-Van-Creveld Syndrome
• Autosomal Recessive Form Has Also Been Described
• See Also DA2B Which Is an Allelic Disorder
• Interstitial Connective Tissue Increased
• Small Type 1 Fibers
• Skeletal Muscle Biopsy Shows Fiber Size Variability
• Mild Muscle Weakness
• Acute Metabolic Decompensation
• Highly Variable Phenotype - Ranging from Asymptomatic to Severe
• Onset: Birth to Early Childhood
• Butyryl Carnitine Increased
• Short-Chain Acyl-CoA Dehydrogenase Activity Decreased
• Chronic Failure to Thrive
• Pigment Does not Develop with Age
• Complete Absence of Melanin Synthesis
• No Ability to Tan
• Milky White Skin
• Asymmetric Visual Evoked Potentials
• Positive Angle Kappa
• Absent Stereopsis due to Anomalous Decussation at the Optic Chiasm
• Misrouting of the Optic Nerves at the Chiasm
• High Refractive Errors
• Visible Choroidal Vessels
• Retinal Pigment Absent
• Blue Gray Irides (Adult)
• Pink Irides
• Absent Iris Pigment
• Mutation in the ALMS1 Gene
• Discolored Enamel
• Deformities of the Calyceal System
• Narrowing of the Ureteropelvic Junctions
• Anterior Open Bite
• Vertical Dysgnathia
• Retrognathic Mandibular Position
• Mutation in the Tumor Associated Calcium Signal Transducer 2 Gene
• Raised Yellowish Gray Gelatinous Masses
• Foreign Body Sensation (Early Symptom)
• Photophobia (Early Symptom)
• Blurred Vision (Early Symptom)
• Lacrimation - Early Symptom
• Open Spina Bifida (Myelomeningocele)
• Subnormal Intelligence
• Ventricular Anomalies
• Polygyria
• Cisterna Magna Absent
• Small Thin Cerebellum
• Death Usually in the Perinatal Period
• Lung Hypoplasia Secondary to Oligohydramnios
• Dilated Bile Ducts
• Hyperplastic Biliary Ducts
• Dysplastic Bile Ducts
• Ureteral Atresia
• Deficient Nephron Differentiation
• Number of Nephrons Decreased
• Muscle Coenzyme Q Deficiency
• Mutation in the MKKS Gene
• Caused by Mutation in the BBS7 Gene (BBS7)
• Mutation in the BBS5 Gene
• Mutation in the BBS4 Gene
• Caused by Mutation in the BBS2 Gene (BBS2)
• Caused by Mutation in the BBS1 Gene (BBS1)
• Mutation in the Regulatory Factor X, Ankyrin Repeat Containing Gene
• Mutation in the RFX5 Gene
• Mutation in the MHC2TA Gene
• Mild to Severe Developmental Delay
• Caused by Mutation in the Klotho Gene
• Mutation in the PMM2 Gene
• Abnormal Glycoproteins
• Most Patients Are Wheelchair Bound
• Stereotypic Behaviors (Hand-Washing Movements, Head Banging)
• Mutation in the PEX26 Gene
• Mutation in the PEX6 Gene
• Mutation in the Peroxisome Biogenesis Factor 5 Gene
• Reduced Numbers of Peroxisomes
• Necrotic Hepatocytes on Biopsy
• Nonspecific Inflammation on Biopsy
• Giant Cell Hepatitis on Biopsy
• Vacuolated Macrophages
• Aplastic or Hypoplasia of First Metatarsal
• Aplastic or Hypoplastic First Metacarpal