39501 to 39600 most common queries

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

• Some Patients May Have Isolated Cardiac Involvement
• Alkaline Phosphatase Decreased
• Allelic Disorder to Androgen Insensitivity Syndrome (AIS)
• Hyperbilirubinemia Unconjugated 20 30MG/DL
• Sudden Death due to Cardiac Arrhythmia May Occur
• Patent Ductus Arteriosus (in One Reported Case)
• Mutation in the Homolog of the Drosophila Crumbs 2 Gene
• Pain Is Relieved by Antiinflammatory Medication
• Seizures and Cognitive Involvement Are Variable Findings
• Affected Individuals Remain Ambulatory
• Progressive Deposition of Basic Calcium Phosphate Crystals
• Asymmetric Cranial Vault
• MRI Shows Dysmyelination
• Obliteration of Peripheral Retinal Blood Vessels
• High Frequency of De Novo Mutations
• Death in Infancy
• Males Are Most Severely Affected
• Age at Onset Ranges from Neonatal to Adulthood
• Mild Symptoms May Occur in Teenage Years
• Inferior Displacement of the Ears
• Transient IgA Deficiency
• Hb H Inclusions in Erythrocytes
• Dysinnervation of Various Cranial Nerves to Ocular Muscles
• Onset in Early to Late Childhood
• Pain is Noted as Cold
• One Family Reported (as of May 2012)
• Ectopic Painful Periarticular Calcified Masses
• Proboscis-Like Nares
• Death in Childhood
• Seizures (Onset at Mean Age of 4-5 Months)
• Allelic Disorder to Early Onset Sarcoidosis
• Carrier Females May Have Mild Features
• Complete Blindness at Age 40-50 Years
• Absence of Pretibial Myxedema
• Onset Usually between 30 and 50 Years of Age
• Asymmetric Occiput
• Subtelomeric Deletion of 16p
• Onset of Liver Involvement in Infancy
• Hyperhidrosis during Pain Episodes
• Caveolae in Muscle Tissue Reduced
• Muscle Biopsy Shows Mitochondrial Aggregates
• Dilatation of the Aortic Sinuses
• Swirled Radicular Dentin Deposits
• Midline Nasal Appendage
• Loss of Central Vision at Age 25-30 Years
• Choroid Coloboma
• Lack of Developmental Development
• Lip Blisters
• Absence of Dermopathy
• Variable Manifestation of Features
• Testosterone Decreased or Increased
• Subocciptal Indentation
• Destruction of Bile Ducts
• Wide Flat Broad Forehead
• Two Families Have Been Reported (Last Curated December 2013)
• Secondary Loss of Sarcolemmal Caveolin 3
• Significant Clinical Overlap with Sotos Syndrome
• Activity of Respiratory Complex I and III Decreased
• Punctate, Yellow-White Sub-RPE Lesions and Subnormal Focal ERG
• Night Blindness by Age 20 Years
• Disturbed Root Development
• Renal Malposition
• Onset in First 2 Decades of Life
• Free Thyroid Hormones Increased
• Syndactyly (2-5)
• Secondary Myopathic Features
• Limb Pain
• Narrow Occiput
• Abnormally Placed Nipples
• Prominent Epithelial Luminal Budding
• Possibly Erythema during Episodes
• Respiratory Complex II + III Activity Decreased
• Most Severe Type of Von Willebrand Disease
• Sarcolemmal Immunostaining for PTRF Decreased
• Retinopathy May Resemble Retinitis Pigmentosa
• Obliterated Tooth Pulp Cavities
• Mutation in the CLCNB Gene
• Constricted Visual Fields by Age 20 Years
• Mutation in the NOD2 Gene
• Mild Peripheral Sensory Neuropathy
• Blepharoptosis
• Sagittal - Lambdoid Sutural Ridging
• One African Family Reported
• Anterior Rounding of Vertebral Bodies
• Absence of Immune Complexes and Lymphocytes in Thyroid Tissue
• Decreased Intraepidermal Nerve Fiber Density Seen on Skin Biopsy
• Cilia May Be Static with Slow Activity
• Onset of Malignancy Can Occur Throughout Life
• Antigen Levels of VWF and Factor VIII Severely Decreased
• Prominent Muscular Appearance
• Punctate Yellow-White Sub-Retinal Pigment Epithelium Lesions
• Dystonic Vocal Tremor
• Hypocalciuria or Normocalciuria
• Cysts Over Wrist and Ankle Joints
• Conjunctival Whitish Salt-Like Deposits
• Cranial Asymmetry
• Atrophy and Weakness of the Tongue, Jaw and Throat Muscles
• Normal Linear Growth
• Distinct Disorder from Parkinson Disease
• Monthly to Bimonthly Attacks