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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