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Caused by Mutation in the Tachykinin Receptor 3 Gene Neuroendocrine Recovery Occurs in Some Patients Caused by Mutation in the Tachykinin 3 Gene Situs Solitus Coagulopathy (INR = 2.2-3.5) Transaminase Levels Elevated Abnormal Phosphatidylglycerol Profile Mutation in the SLC52A2 Gene Sleep Hypoventilation Neurogenic Changes Seen on EMG Cognition Is Preserved Treatment with Dichloroacetate Prolongs Survival Onset at Birth or within First Months of Life T2 Weighted Hyperintensities in Deep Brain Regions Aspiration due to Orofacial Incoordination Poor Respiratory Effort Visceral Malformations Breath-Holding Episodes in Infancy Neonatal Apneic Episodes Episodic Hyperventilation Keratotic Plaque in Perigenital Region Bleeding due to Vitamin K Deficiency Granulocyte Dysfunction Primary Combined Immunodeficiency Micronodular Cirrhosis Proximal Tubulopathy Loss of Consciousness Mildly Delayed Psychomotor Development Mild or Variable Dysmorphic Features Most Patients Have De Novo Mutations Autistic Features Brainstem Hypoplasia Polymicrogyria - Usually Frontal Usually Posterior Pachygyria Onset of Seizures before Age 2 Years Ventilator Dependency Normal Growth and Development Possibly Atypical Features (e.g., Nuclear Pleomorphism) Renal Cell Carcinoma - Usually Clear Cell Type Atrophy of the Small Muscles in the Hand Nerve Amplitudes of Peroneal Nerve Reduced Iron-Containing Deposits in Various Brain Regions Lower Motor Neuron Signs - Later Early Upper Motor Neuron Signs Capillary Malformations Apparent at Birth Hippocampal Hypoplasia Mutation in the RAB3 GTPase Activating Protein Subunit 2 Gene Absent Visual Evoked Potentials Subdural Space around Frontal Lobes Increased Wide Sylvian Fissures Frontotemporal Polymicrogyria Progressive Spastic Diplegia to Quadriplegia Hypertrichosis of Upper Back Centrally Placed Hair Whorl Externally Rotated Feet in Valgus Position Distal Limb Contractures Prominent Secondary Alveolar Ridges Mild Blepharophimosis Atonic Pupils Short Prominent Overhanging Philtrum Fused Hypoplastic Labia Minora Muscle Mass Decreased - Especially Distally Deep Tendon Responses of Lower Extremities Increased Thickened Frontal Cortex Severe Spastic Quadriplegia Most Patients Are Severely Affected Caused by Mutation in the Post-GPI Attachment to Proteins 2 Gene Disordered Sleep Pattern Renal Ultrasound at Ages 4 and 7 Normal Risk of Miscarriage Increased Decreased NK Cells, Particularly NK-Cell Precursors B Cell Lymphopenia Dendritic Cell Cytopenia Recurrent Infections, Especially Viruses and Fungi Susceptibility to Myeloid Leukemia Susceptibility to Myelodysplasia Old Order Amish and Turkish Patients Reported Severe to Profound Congenital Sensorineural Hearing Loss Learning and Developmental Delay Gonadotropin Increased Caused by Mutation in the WD Repeat-Containing-Protein-35 Gene Absent Ossification of Radii, Ulnae, Tibiae, and Fibulae Gastrointestinal Malrotation Splenic Dysgenesis Pancreatic Dysgenesis Markedly Shortened Ribs Tubular Cysts Mild Hypospadias Large, Fleshy Ears Dysplastic Kidneys Choreoathetosis Respiratory Insufficiency at Birth Progressive Respiratory Insufficiency Decreased Chest Wall Compliance due to Muscular Hypertonicity No Clinical Details Provided by the Authors Asphyxiating Thoracic Dystrophy or Jeune Syndrome Hyperintensities in Basal Ganglia and/or Thalamus Thin Cortex Bone Poor Muscle Mass Subsarcolemmal Mitochondrial Aggregates