23701 to 23800 most common queries

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

• 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