21501 to 21600 most common queries

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

• Bull's Eye Macular Retinal Pigment Epithelium Changes
• Color Vision Deficits
• Mutation in the Gene Encoding Alpha B Crystallin
• Nuclear Cataract
• Posterior Polar Cataract
• Mutation in the NRL Gene
• Asymptomatic Photopic Visual Field Defects
• Progressive Peripapillary Chorioretinal Atrophy
• Optic Disc Pallor in Fourth Decade of Life
• Visual Acuity in Fourth Decade of Life Decreased
• Night Blindness with Onset in 1st-2nd Decade of Life
• Contiguous Gene Deletion of 12 Mb Encompassing 47 Genes on 1p32-p31
• Dysplastic Helices
• Death Usually Occurs in Early Infancy
• Mutation in the JAM3 Gene
• Renal Cystic Dysplasia
• Atrophic Pons
• Porencephalic Changes
• Cystic Destruction of Brain Tissue Including Basal Ganglia
• Multifocal Intraparenchymal Brain Hemorrhage
• Onset in Adolescence or Young Adulthood
• Caused by Mutation in the Anoctamin 10 Gene
• Mild Atrophy of the Proximal Lower Limbs
• Cerebellar Atrophy Severe
• Adults May Lose Ability to Walk
• Rapid Progression in Adolescence
• Late-Onset Contractures
• Discharges Migrating between Cortical Regions
• EEG Generalized Slowing
• Seizures Are Refractory to Treatment
• Seizure Frequency Decreases during Early Childhood
• Multiple Seizures Daily at Onset
• Posterior White Matter Volume Reduced
• Generalized Stiffening
• Allelic Disorder to Spastic Paraplegia Type 3
• Mutation in the Atlastin 1 Gene
• Mild Pes Cavus
• Reflexes May be Decreased, Normal or Increased
• Spasticity in Infancy
• Upper Motor Involvement
• Square Distal Fingertips
• Long Columella Extending below the Alae Nasi
• Normal Palpebral Fissures
• Mildly Downslanting Palpebral Fissures
• Heavy Arched Eyebrows
• Possibly Mild Manifestations in Heterozygote Carriers
• Bleeding after Trauma or Surgery
• Mutation in the Coagulation Factor II Gene
• F2 Activity Decreased
• F2 Antigen Levels Decreased
• Onset in Utero or in Infancy
• Mutation in the SRY Box 17 Gene
• Duplication of the Renal Pelvis
• Mutation in the KLF1 Gene
• Erythroblasts Show Atypical Cytoplasmic Inclusions
• Bone Marrow Smear Shows Erythroid Hyperplasia
• Expression of CD44 and AQP1 on Erythrocytes Decreased
• Circulating Orthochromatic Erythroblasts
• Nucleated Peripheral Red Cells
• Most Retain Independent Ambulation
• Slow, Spastic Tongue Movements
• Poor Oromandibular Coordination
• Hyporeflexia (Later Symptom)
• Increased Tone in the Upper Limbs (Occurs Later)
• Prominent Crowded Teeth
• Hypermetropia
• Mild Cochlear Hearing Loss
• Anterior Maxillary Protrusion
• Mutation in the FOXP1 Gene
• Described in Patients of Caucasus Jewish Origin
• Normal Head Circumference at Birth
• Onset at 4 to 9 Weeks of Age
• Mutation in the MED17 Gene
• Lack of Visual Tracking
• Thin Brain Stem
• Small Thalami
• Severe Diffuse Cerebellar Atrophy
• Severe Diffuse Cerebral Atrophy
• Multifocal Spike-and-Slow-Wave Activity
• Severe Developmental Retardation
• Tetrasialo Transferrin Decreased
• Pupillary Light Reflex Blunted
• Lack of Blink Reflex
• Delayed Pupillary Responses
• Inverted Nipples
• Onset in 2nd Decade of Life
• Mutation in the CDHR1 Gene
• Moth-Eaten Appearance of Fovea
• Horizontal Oval-Shaped Fovea
• Irregular Pigmentation of Fovea with Atrophy of RPE
• Central and Peripheral Pigment Abnormalities
• Severe Color Vision Defect
• Caused by Mutation in the Lysyl-tRNA Synthetase Gene
• Lower Limb Muscle Atrophy due to Peripheral Neuropathy
• Contiguous Duplication of 2.2 Mb on Chromosome 17q23.1-q23.2
• Tufted Distal Phalanx of First Toe
• Hypoplastic Distal Tibial Epiphysis
• Short Calcaneus
• Short and Thickened First and-or Second Metatarsal
• Lack of Normal Iliac Flare