24501 to 24600 most common queries

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

• Mutation in the GNPAT Gene
• Frequent Fractures
• Hyperglycemia-Induced Osmotic Diuresis
• Moderate to Severe Prelingual Sensorineural Hearing Loss
• Mutation in the TBC1D24 Gene
• Severe Aortic Stenosis
• Mild Aortic Stenosis
• Moderate Aortic Valve Dysplasia
• Fleshy Tumors of the Tongue
• Pale Optic Nerves
• Discrete Dilatation of the Right Kidney Pelvis
• Dilatation of the Lateral and Third Ventricles
• Posterior Fossa Cyst Continuous with the Fourth Ventricle
• Caused by Mutation in the KIAA0196 Gene (KIAA0196 610657-0004)
• Mutation in the PET100 Gene
• Mutation in the C12ORF62 Gene
• High Electrolyte Content of Sweat
• Death within First Year of Life (20%)
• Twenty-Five Percent of Affected Babies Are Stillborn
• Unusual Hairline
• Mutation in the DNA Helicase RECQ-Like Type 4 Gene
• Abnormal Breathing Patterns
• Death in Infancy in Majority of Patients
• Mutation in the Homolog of S Cerevisiae FIG4 Gene
• Enlarged Cytoplasmic Vacuoles in Bone, Muscle, and Brain Tissue
• Papillo-Macular Atrophic Chorioretinopathy
• Weak Sucking
• Vacuolated Neurons
• Diffuse Neuronal Loss
• Inter- and Intrafamilial Variability
• Choroidal Dystrophy
• Sensorimotor Axonal Neuropathy
• Upper Motor Neuron Signs
• Abrupt Transition from Cartilage to Bone
• Disorganization of the Cartilage Column
• Abnormal Ossification Centers
• Precocious Calcification
• Mild Hair Hypopigmentation
• Mild to Severe Skin Hypopigmentation
• Giant Granules in Muscle Cells
• Episodic Tachypnea
• Missing Digital Phalanges
• Mutation in the RNF216 Gene
• Primary or Secondary Amenorrhea
• Small, Soft Testes
• No Spontaneous Puberty
• Prominent Chorea
• Hypothalamic and-or Pituitary Defect
• Secondary Sexual Characteristics Lacking
• Mutation in the RAB3GAP2 Gene
• Hypoketotic Hypoglycemia under Fasting Conditions
• Later Onset with a Milder Phenotype May Also Occur
• Mutation in the Solute Carrier Family 25 Member 20 Gene
• Free Carnitine Low
• Skeletal Muscle Damage
• Hyphae and Pseudohyphae in Cytoplasm of Multinucleated Giant Cells
• Hyphae and Pseudohyphae Within Granulomas
• Multinucleated Giant Cells in Dermis
• Epithelioid Cell Infiltration of Dermis
• Macrophage Infiltration of Dermis
• Chronic Deep Dermatophytosis
• Dermatophytic Invasion of Bone
• Dermatophytic Lymphadenitis
• Tinea Capitis Severe or Recurrent
• Dermatophytic Invasion of Gastrointestinal Tract
• Caused by Mutation in the CD96 Gene
• Femur Bent to Lateral Convex Position
• Knobby, Rounded Ends of Femur and Radius
• Short Legs Especially in the Proximal Part
• Birth Length <38 cm
• Mutation in the RECQL3 Gene
• Acute Apnea
• 'Intestinal Pseudotuberculosis'
• Sensitivity to Hypercapnia and Hypoxemia Decreased
• Abnormal Respiration due to Defect in Autonomic Function
• Periods of Apnea
• Shallow Breathing - Tidal Volume Decreased
• Distal Muscular Atrophy due to Peripheral Neuropathy
• Poor Outcome
• Cardiac Failure at Birth
• Malposition of the Great Arteries
• Single Ventricle with Right Ventricular Morphology
• Univentricular Atrial-Ventricular Connection
• Complex Heart Malformation
• Trilobulated Lungs Bilaterally (2 Morphologic Right Lungs)
• Periarticular Calcification
• Expiratory Apnea with Cyanosis
• Caused by Mutation in the Argininosuccinate Lyase Gene
• Plasma Hepcidin Inappropriately Normal or Increased
• Caused by Mutation in the Tyrosinase Gene
• Tyrosinase Activity Absent
• Albinotic Optic Disc
• Mutation in the ELANE Gene
• Promyelocytes Increased
• Up to 3-fold Increase in Blood Monocytes
• Absolute Neutrophil Count Decreased (0.0-0.2*10^9/l)
• Recurrent Severe Infections
• Autosomal Recessive Inheritance Reported in One Case
• Muscle Strength and Bulk is Preserved
• Limb Muscular Atrophy