45601 to 45700 most common queries

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

• Cortical Malformations
• Autosomal Recessive Inheritance: More Severe Phenotype
• Radiculitis
• Associated with Malignant Hyperthermia (MHS)
• Febrile Seizures Show Onset between 6 Months and 3 Years
• Mutation in the BCS1L Gene
• Allelic to Brachydactyly Type A1
• Average Age at Death Is 37 Years
• Mutation in the TMC1 Gene
• Reduction Deficits of Thumbs
• Caused by Mutation in the Zinc Metalloproteinase STE24 Gene
• Early-Onset Cataracts
• Disorder Cognition
• Later Onset Has Been Reported
• Postnatal Onset Macrocephaly
• 3 Hz Spikes
• Cutaneous Syndactyly of Digits
• Hair Lacks Pigment
• Normal to Near Normal Visual Acuity in Carrier Females
• Progresses to Involve Upper Limbs
• Background Retinopathy
• Major Cause of Death is Heart Failure
• Autosomal Recessive Inheritance Reported
• Abnormal Facial Movements
• Age at Onset: Childhood to Adulthood
• Stroke-Like Symptoms
• Normal Scalp Hair
• Many Patients Become Wheelchair-Bound Later in Life
• Mutation in the Bone Morphogenetic Protein 4
• Broad Thorax
• Femoral Nerve Compression
• Reported Cases All Sporadic
• Average Age at Onset between 40 and 50 Years
• Onset in Lower Limbs
• Moderate Central Loss of Visual Acuity in Males
• Estimated Carrier Frequency 1 : 100
• Highly Variable Phenotype and Severity - Even within Families
• Nemaline Rods May Be Observed
• Light-Colored Eyes
• Impaired Walking Ability
• Acute Neurologic Deficits due to Cerebrovascular Disease
• Central Nervous System Stimulation
• Cerebellar Ataxia Shows Onset in Young Adulthood
• Mild to Profound Mental Retardation
• Absence of Normal Rete Ridge Pattern
• Joint Tenderness
• Flexion of Thumbs
• Absent / Hypoplastic Corpus Callosum
• Onset at Age 1-2 Years
• Peripheral Neuropathy Occurs in Adulthood
• Febrile Attacks Disappear in Adulthood in Some Patients
• Normal-Appearing Male External Genitalia in 46,XX Individuals
• Possibly Myopathic Features
• Abnormal Alignment of Collagen Bundles
• Community-acquired Pneumonia
• Some Patients Have Additional Neurologic Involvement
• Skin Lesions Improve in the Summer
• Most Common Inherited Ataxia
• Hyperkeratosis of the Palms
• Changes in Sarcoplasmic Reticulum and T-Tubules
• Episodes Last 1 to 2 Days
• True Anophthalmia
• Pain of Head and Neck Region
• Adult Onset
• Motor Unit Action Potentials Enlarged
• Onset of Hearing Loss prior to or during Adolescence
• Caused by Mutation in the Mevalonate Kinase Gene
• Impaired GlcNAc-PI Synthesis
• Disruption Plasma Membrane
• Dermal Thinning
• Papulosquamous Erythematous Plaques
• Some Patients Have Isolated CFEOM
• Cores Contain Densely Packed Myofilaments
• Onset before Adolescence
• Pneumocystis Jiroveci Infection
• Mutation in the NLR Family Pyrin Domain Containing Protein 3 Gene
• Urethral Discharge in Males
• Small External Auditory Canals
• Telomerase Activity Decreased
• Denervation and Renervation (Neurophysiologic Studies)
• Mutation in the SDHB Gene
• Abnormal Auditory Brainstem Responses
• Cone Responses on Electroretinography Reduced
• Connective Tissue Increased
• Two Patients from 1 Italian Family Have Been Reported
• Erythrokeratodermia
• Most Common Form of Childhood Idiopathic Epilepsy
• Tight, Rigid Skin
• Wasting Syndrome
• Chlamydia Trachomatis
• Rash Possibly Pruritic
• Mitochondrial Malic Enzyme Decreased
• Wrist Contractures
• Extraadrenal Pheochromocytomas (48%)
• Small, Triangular Pinnae
• Avascular Necrosis of the Hip
• Otoacoustic Emission Amplitude Decreased
• Mutation in the AIFM1 Gene
• Onset at Age 36 Years
• Intraretinal Pigmentation