25801 to 25900 most common queries

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

• 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
• Brisk Jaw Jerk
• Hyporeflexia (Later Symptom)
• Increased Tone in the Upper Limbs (Occurs Later)
• Cerebellar Ataxia - Limb and Trunk
• 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
• Diffuse Slowing of Background
• Multifocal Spike-and-Slow-Wave Activity
• Truncal Arching
• Severe Developmental Retardation
• Low Hairline
• Tetrasialo Transferrin Decreased
• Pupillary Light Reflex Blunted
• Lack of Blink Reflex
• Delayed Pupillary Responses
• High Forehead
• 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
• Thickened Inferior Pubic Ramus
• Onset of Edema in Childhood
• Mutation in the PTPN14 Gene
• Mutation in the WDR35 Gene
• Tremor Is Aggravated by Low Glucose or Light
• Jerk-Locked Premyoclonus Spikes
• Giant Cortical Somatosensory Evoked Potentials (SEPs)
• Electrophysiologic Studies Indicate Cortical Origin
• Photoparoxysmal Response
• Generalized and Focal Spike-and-Slow-Waves
• Walking Impairment due to Myoclonus (Late Symptom)
• Intrauterine Growth Retardation
• Variable Age of Onset from 6 to 50 Years of Age
• Autosomal Recessive Inheritance of Type 2N
• Autosomal Dominant Inheritance in Most Types
• There Are Several Subtypes
• Mutation in the Von Willebrand Factor Gene
• Patients with Type 2B Develop Thrombocytopenia
• Bleeding Prolonged due to a Qualitative Defect in the VWF Protein
• Factor VIII Decreased in Patients with Type 2N
• Thick Hair
• Some Fragmented or Disrupted Golgi
• Impaired O-Glycosylation
• N-Glycosylation Impaired
• Galactosylation Defects
• Sialylation Defects
• Serum Transferrin Isoelectric Focusing Shows Type 2 Pattern
• Dysmorphic Facies
• Recurrent Gastrointestinal Infections
• Thin Corpus Callosum
• Moderately to Severely Delayed Psychomotor Development
• Progressive Microcephaly
• Periventricular White Matter Abnormalities
• Corpus Callosum Abnormalities
• Caused by Mutation in the DEAD-H Box 11 Gene
• Jugular Hypoplasia
• Hyperpigmented Patches
• Hypopigmented Patches
• Coloboma of the Right Optic Disc
• Bilateral Epicanthal Folds
• Bilateral Hypoplastic Cochlea
• Caused by Mutation in the Anoctamin 5 Gene
• Muscle Biopsy Shows Disruption of the Sarcolemmal Membrane
• Chelation Therapy Can Result in Clinical Improvement
• Mutation in the SLC30A10 Gene
• Erythropoietin Increased
• Manganese Increased
• Sensorimotor Neuropathy
• Lesions in the Anterior Pituitary
• Hyperintensities in the Basal Ganglia (MRI)