Sitemap | Symptoma 24501 to 24600 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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 Hemolysis May Be Exercise-Induced
