25701 to 25800 most common queries

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

• Vibratory Sense in the Lower Limbs Decreased
• Caused by Mutation in the Ventral Anterior Homeobox-1 Gene
• Bilateral Cleft Palate
• Bilateral Small Optic Nerve
• Severe Bilateral Microphthalmia
• Head Circumference <3rd Percentile
• Height in Third Centile
• Vertical Orientation of Hippocampus
• Some Patients May Not Achieve Walking
• Death May Occur in Childhood due to Respiratory Failure
• Focal Z-Band Disarray Devoid of Mitochondria (EM)
• Minicores
• Myopathic Changes in Affected Muscle (EMG)
• Some May Not Achieve Ambulation
• Described in Families from Galicia, Spain
• Gaze Limitation
• Horizontal Gaze Nystagmus
• Hearing Loss Progressive
• Chronic Denervation Seen on Skeletal Muscle Biopsy
• Distal Skeletal Muscle Atrophy (Late Symptom)
• Fasciculations (Late Symptom)
• Dystrophy of Free Margin of Fingernails
• Onycholysis of Fingernails
• Peripheral Pulmonary Stenosis
• Death in Childhood May Occur Due to Infection
• Normal Numbers of Absolute B Cells
• Genu Recurvatum
• Joint Hyperlaxity
• Mutation in the Hepatic Lipase Gene
• Mutation in the MER Tyrosine Kinase Protooncogene
• Autofluorescent Dots in Posterior Pole
• Electroretinographic Responses Decreased or Non-Recordable
• Thinning of the Photoreceptor Layer (OCT)
• Wrinkled Appearance of Inner Retina
• High Reflectivity of Fundus
• Pigment Mottling in Mid Periphery
• Bone Spicule Pigment Depositions
• Intraretinal Pigment Deposition Extending to Posterior Pole
• Bull's Eye Macular Retinal Pigment Epithelium Changes
• Color Vision Deficits
• Mutation in the Gene Encoding Alpha B Crystallin
• Complete Cataract
• Nuclear Cataract
• Posterior Polar Cataract
• Mutation in the NRL Gene
• Non-Detectable ERG, All Components (Older Individuals)
• Asymptomatic Photopic Visual Field Defects
• Progressive Peripapillary Chorioretinal Atrophy
• Optic Disc Pallor in Fourth Decade of Life
• Pigmentation in Retinal Periphery
• 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
• Cystic Renal Dysplasia
• Atrophic Pons
• Subependymal Calcifications
• 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
• Tortuous Conjunctival Vessels
• Mild Atrophy of the Proximal Lower Limbs
• Cerebellar Atrophy Severe
• Adults May Lose Ability to Walk
• Rapid Progression in Adolescence
• Late-Onset Contractures
• Multifocal Discharges
• 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 to Spastic Paraplegia Type 3
• Mutation in the Atlastin 1 Gene
• Mild Pes Cavus
• Lancinating Pain
• 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
• 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