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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