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24201 to 24300 most common queries

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

Giant Somatosensory Evoked Potentials Occasionally Generalized Tonic Clonic Seizures Mutation in the COL9A3 Gene Homozygous Phenotype Not More Severe Mutation in the ETS2 Repressor Factor Gene Mild Shortening of Digits Pansynostosis Coronal Synostosis Sagittal Synostosis Dental Malocclusion Class I Vertical Displacement of Nose Exorbitism (Major Feature) Prominent Forehead (Major Feature) Language Acquisition Difficulties Increased Intracranial Pressure Preoperatively Ascending Muscle Weakness (Beginning with Feet and Legs) Progressive Breathing Difficulty Frontal and Parietal Bossing Embryonal Rhabdosarcoma Mild Hyperactive Behavior Moderate Learning Difficulties Infantile Onset Posterior Subcapsular Lens Opacities Night Blindness - Onset in Teens Mutation in the RAB3GAP1 Gene Mutation in the Myosin VIIa Gene Most Patients Are Female Mutation in the ZC4H2 Gene Fat Pads on Hands and Feet Severe Muscle Weakness Mutation in the PLP1 Gene Periodic Apnea while Awake Progressive Vision Impairment Caused by Mutation in the Emerin Gene (EMD) Mutation in the IDS Gene Pebbly Skin Lesions on Back, Upper Arms and Thigh Pulmonary Hypoplasia Autistic Behavior Syndactyly of Toes 2-3 Shortening of the Fifth Metacarpal Homocysteinemia Athetosis Asplenia and-or Polysplenia Muscle Wasting (Especially Legs and Arms) HHS: More Severe Variant, Often Death in Childhood Cerebellar Hypoplasia - HHS Variant Cerebellar Ataxia (in HHS Variant) Delayed Development (about 25%) Thick Wiry Hair Fifth Finger Clinodactyly Coronal Craniosynostosis Regenerative Nerve Sprouting Nerve Biopsy Shows Loss of Myelinated Fibers Spinocerebellar Ataxia Central Nervous System Involvement Male Fetal Demise Diastema of Incisors Female Carriers May Develop Mild Hearing Loss as Adults Prelingual Onset in Males Mutation in the COL4A6 Gene Incomplete Separation of the Cochlea from the Internal Auditory Canal Carrier Females Are Unaffected Caused by Mutation in the KIAA2022 Gene No Sphincter Control Stereotypical Hand Movements Poor or Absent Speech Acquisition Spasticity Occurs before Parkinsonism Some Response to L-Dopa Therapy Four-Repeat Tau-Plaques in the Striatum Onset in First Decades Auditory Brainstem Responses Decreased Axonal Sensorimotor Polyneuropathy Distal Sensory Impairment, Predominantly in Lower Limbs Abnormal Transferrin Pattern Tends to Improve with Age Males Carry Mutations in the Somatic Mosaic State Shortened Extremities Acute Nephrotic Syndrome aPPT Prolonged Abnormal Isoelectric Focusing of Serum Transferrin Swelling of Eyelids Swelling of the Hands and Feet Developmental Regression after Onset of Seizures Periodic Hyperpnea - Periodic Apnea Marked Thickening of Descemet Membrane Discontinuity and Degeneration of the Endothelial Cell Layer Endothelial Changes Resembling Lunar Craters Late Subepithelial Band Keratopathy Congenital Corneal Clouding Asymptomatic if Papillary Zone is Spared Mutation in the Delta Aminolevulinate Synthase 2 Gene Erythrocyte Zinc- and Metal-Free Protoporphyrin Increased Most Patients Become Ventilator Dependent Subtle Dysmorphic Facial Features Males Are More Severely Affected Large Appearing Eyes Autonomic Disturbances Thick Distal Phalanges Abnormal Liver Enzymes during Illness Non-Detectable Responses on Electroretinography Midperipheral Intraretinal Pigmentation