37001 to 37100 most common queries

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

• Facial Nerve Weakness
• Supra Acetabular Constriction
• Intra- and Interfamilial Variability of Severity of Phenotype
• Mild Cochlear Hearing Loss
• Mutation in the LZTR1 Gene
• Radiograph Shows Ground-Glass Appearance
• Serum Osmolality Increased
• Hyperpyrexia Usually Associated with Anesthesia
• Electrolyte Disturbances due to Intractable Diarrhea
• Loss of Reflexes due to Myopathy
• Enteropathy with Villous Atrophy
• Postmenopausal Hemorrhage
• One Highly Consanguineous Family Reported (as of May 2014)
• One Patient Has Been Reported - Last Curated September 2013
• Intracellular Accumulation of Unesterified Cholesterol
• Beaking of Vertebral Bodies T12-L3
• Cataracts Possibly Subclinical
• High Risk of Recurrence after Surgery
• Prominent Subnasal Region
• Visceroautonomic Dysfunction
• Radiography Shows Bilateral Diffuse Interstitial Infiltrates
• Recurrent Cutaneous Mycoses
• Anterior Maxillary Protrusion
• Myosin Storage Myopathy
• Generalized Tissue Edema
• Chronic Inflammatory Arthritis
• Seizures and Dystonia Peak during Childhood
• Myeloid Proliferation
• Flattened Nasal Root
• Abnormal Cardiolipin Subspecies Composition
• Lower Thoracic Interpediculate Narrowness
• Ferritin Hyperglycosylation
• Earlier Onset is Associated with More Aggressive Disease Course
• Pelvic Laparoscopy Abnormal
• Progressive Optic Nerve Atrophy
• Mutation in the Titin Gene
• Complex Cardiac Malformation
• Puffiness of Feet
• Mild Growth Deficiency
• Thickened and Keratinized Eyelids
• Mutation in the FOXP1 Gene
• Mutation in the KRT13 Gene
• Mutation in the HGF Gene
• Variable Deficit of Tissue Macrophages
• Prolonged Somatosensory Evoked Potentials
• Sella Turcica Normal or Enlarged
• Ferritin L Subunit Elevated
• Abnormal Phospholipid Profile
• Onset in Fifth or Sixth Decade
• Fibrinogen Decreased
• Described in Patients of Caucasus Jewish Origin
• Late-Onset Arthralgia
• Puffiness of Hands
• No Cardiomyopathy
• Small, Atonic Pupils
• Limbal Stem Cell Insufficiency
• Mutation in the Tyrosyl-tRNA-Synthetase Gene
• Lack of Circulating Dendritic Cells
• Episodic Paralysis after Strenuous Exercise
• White, Spongy Plaques on the Pharyngeal Mucosa
• Rolandic Sharp-Waves and Spikes
• Osteopenia in Early Infancy
• Transferrin Saturation Normal
• Contractures of the Fingers - Especially Fifth Finger
• Defects in Mitochondrial Oxidative Phosphorylation
• Prothrombin Consumption Increased
• Normal Head Circumference at Birth
• Late-Onset Osteoarthritis
• Secondary Decrease of Calpain 3 Protein Expression in Muscle
• Broad Dense Laterally Descending Eyebrows
• Lack of Circulating Monocytes
• Favorable Response to BH4 Therapy
• Round, Gaping Mouth
• Moderate Joint Limitation
• Autosomal Recessive Inheritance Has Been Reported in 1 Family
• Orderly Appearance of Basal Cell Layer
• Generalized Seizures May Occur
• Slowly Progressive High Frequency Hearing Loss
• Degeneration of Mitochondria
• Shortening of the Fascial Structures of the Palm and Fingers
• Prostatic Biopsy Abnormal
• Congenital Nuclear Cataract
• Onset at 4 to 9 Weeks of Age
• Lesions Occur Mainly on the Pinnae of the Ears or on the Face
• Fatty Infiltration of Affected Muscles
• Widened Lateral Ventricles
• Breathing Difficulties in the Neonatal Period
• Accessory Carpal Ossification Centers
• Neurologic Signs May Not Be Present
• Absence of Olfactory Bulbs
• Clear to Faintly Hazy Corneas
• Onset in Early Childhood to Puberty
• Narrow Intercellular Spaces between Vacuolated Cells
• Partial Seizures - Often Hemifacial
• Disease Is Life Threatening if Untreated
• Thickening of Fascial Structures of Palm and Fingers
• Mutation in the MED17 Gene
• Coarse Hyalinized Collagen Bundles in a Whorled Pattern
• Favorable Response to Ursodeoxycholic Acid Treatment
• Solitary Lytic Bone Lesion