Sitemap | Symptoma 25801 to 25900 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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) Spastic Paraparesis
