40501 to 40600 most common queries

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

• Small, Irregular Capital Femoral Epiphyses
• Short Iliac Wings
• Anterior Tongue-Like Deformity
• Electroretinogram Decreased
• Onset at Age 4 Years
• 'Curvilinear' Profiles Ultrastructurally
• Fibroblasts Demonstrate Rapid Growth with Increased DNA Synthesis
• Fibroblasts Show Increased Sensitivity to Apoptosis
• Fibroblasts Attach Poorly
• Fibroblasts Small and Rounded with Prominent Nucleoli
• Apoptotic Neurons
• 'Ballooned' Neurons with Autofluorescent Fine Granular Material
• Slowing with Polyspike-and-Slow-Waves
• Psychomotor Deterioration
• Onset in Early Infancy between 2 Weeks and 3 Months
• Inability to Reach
• Startle Myoclonus
• Tonic Spasms
• Severe Metabolic Acidosis
• Increased Serum Direct Bilirubin
• Onset in Middle Age - 44 to 60 Years
• Mutation in the Amyloid Precursor Protein Gene
• Hyaline Thickening of Cerebral Arteries
• Recurrent Strokes
• Recurrent Cerebral and Cerebellar Hemorrhage
• Progressive Dementia with Onset of Disease
• Progressive Permanent Flexion Limitation of Toes
• Progressive Permanent Flexion Limitation of Fingers
• Hyporeflexia in Affected Muscles
• Hip Girdle Muscle Weakness
• Normal Cochlear Microphonics
• Normal Otoacoustic Emissions
• Normal Outer Hair Cell Functions
• Abnormal Amplitude Modulation Detection
• Abnormal Gap Detection
• Abnormal Auditory Temporal Processes
• Abnormal or Absent Auditory Nerve and Brainstem Responses
• Hearing Loss - Neural Type
• Average Age at Onset 18.6 Years
• No Auditory Brainstem Response
• Intestinal Aganglionosis
• Myenteric and Submucosal Ganglia in the Bowel Decreased
• Mutation in the SRY Box 10 Gene
• White Eyebrows
• Hypopigmented Skin Patch
• Distal Muscle Weakness due to Peripheral Neuropathy
• Absence of Exophthalmos
• Usually Requires Total Thyroidectomy
• Phenotypic Variation
• Age at Onset Ranges from Neonatal to Adulthood
• Absence of Pretibial Myxedema
• Absence of Dermopathy
• Free Thyroid Hormones Increased
• Absence of Anti-Thyroid Antibodies
• Absence of Immune Complexes and Lymphocytes in Thyroid Tissue
• Distinct Disorder from Parkinson Disease
• Onset 30-40 Years of Age
• Symmetric Lesions of the Basal Ganglia
• No Response to L-Dopa Treatment
• No Tremor
• Slowly Progressive Dysarthria
• Hypoplastic Metatarsals
• Prominent Trochanter
• Narrow Short Femoral Neck
• Irregular Sclerotic Acetabula
• Rectangular Lumbar Spinal Canal
• Internal Auditory Canal Hypoplasia
• Short Distal Phalanges - Toes 2-4
• Bone Erosions (5th Finger)
• Pointed Phalanx (5th Finger)
• Short Distal Phalanx - 5th Finger
• Bicuspid Pulmonary Valve
• Translucent Skin
• Velvety Texture
• Plasma Renin Normal
• Plasma Cortisol Low
• Plasma Adrenocorticotropic Hormone Elevated
• Caused by Mutations in the Myotilin Gene
• Phagocytic Vacuoles with Degraded Membranous Material
• Increased Staining for Myotilin Dystrophin Desmin
• Congophilic Staining
• EMG Shows Myopathic and Neurogenic Changes
• Muscle Stiffness or Aching
• Proximal Muscle Involvement May Occur
• Progressive Distal Muscle Weakness
• Subscalp Nodule (1.5-4 cm)
• Atretic Occipital Cephalocele
• Head Circumference Large for Gestational Age
• Bony Defect with Cephalocele
• Normal Neurologic Development in Most Cases
• Short Trunk - Short Stature < 3rd - 50th Percentile
• Flattened Capital Femoral Epiphyses
• Hip Abduction Decreased
• Caused by Mutation in the Melanophilin Gene
• Mutation in the MYO5A Gene
• Large Clumps of Pigment Irregularly Distributed Along Hair Shaft
• Silver-Gray Eyebrows
• Silver-Gray Eyelashes
• No Immunologic Abnormalities
• Type 1 Has Most Severe Manifestations by Age 4-5 Years