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27101 to 27200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Retinal Vasculogenesis Impaired
Incomplete Penetrance
Mutation in the RAD51 Gene
Mutation in the DDOST Gene
Disordered Myelination
Caused by Mutation in the Histidyl-tRNA Synthetase Gene
Repetitive Eye Blinking Accompanying Visual Hallucinations
Diffuse Pigmentary Stippling of Peripheral Retina
Bull's Eye Maculae
Fine Horizontal Nystagmus
Progressive Visual Impairment Starting Early Childhood
Progressive Hearing Loss Starting in Infancy
Psychomotor Agitation Accompanying Visual Hallucinations
Inappropriate Laughter Accompanying Visual Hallucinations
Nonsensical Speech Accompanying Visual Hallucinations
Visual Hallucinations Precipitated by Infectious Illness
Mild Truncal Ataxia
Hyperactive Patellar Tendon Reflexes
Mutation in the SNIP1 Gene
Subglottic Stenosis
Lumpy Skull Surface
Broad Lower Face
Poor Feeding (Neonatal Period)
Multifocal Intractable Seizures
Irregular Cortical Ribbon
Non-Recordable or Severely Reduced Rod Pattern (ERG)
Bone Spicule-Like Pigmentation
Pigment Clumping
Waxy Optic Disc
Mutation in the BRCA1 Associated ATM Activator 1 Gene
Depressed Frontal Bones
Small or Absent Fontanels
Episodic Myoclonic Spasms
Background Slowing
Multifocal Seizures
Continuous Refractory Seizures
Lack of Volitional Movement
Axial and Limb Rigidity
Hyperchloremic Metabolic Acidosis - HCO
3
15.5 +- 2.0 mM
Hypertension at <18 Years (94%)
Diagnosis at Age 9±6 Years
Caused by Mutation in the Cullin 3 Gene (CUL3 603136-0001)
Hyperchloremia - Mean 114 mM
Hyperchloremic Metabolic Acidosis (HCO3: 17.6±1.5 mM, Recessive)
Age at Diagnosis 26 +- 14 Years for Recessive Disease
Age at Diagnosis 24 +- 18 Years for Dominant Disease
Caused by Mutation in the Kelch-Like Protein 3 Gene
Age at Onset Ranges from 16 Years to 65 Years
Diminished or Extinguished Responses on ERG
Pigment Migration
Arterial Attenuation
Degeneration of Retinal Pigment Epithelium
Good Visual Acuity
Only 13% Have Developed Hypertension by Age 18 Years
Age at Diagnosis 36 ± 20 Years
Mutation in the WNK Lysine Deficient Protein Kinase 1 Gene
Hyperkalemia - 5.8 +- 0.8 mM
Mild Hyperchloremic Metabolic Acidosis
Only 10% Develop Hypertension at 18 Years of Age or Less
Age at Diagnosis 28 +- 18 Years
Mutation in the WNK Lysine Deficient Protein Kinase 4 Gene
Hyperkalemia - 6.4 +- 0.7 mM
Mutation in the ATPase Family Gene 3-Like Protein 2 Gene
mtDNA Decreased
Large Lipid Droplets
Skeletal Muscle Biopsy Shows Misplaced Mitochondria
Distal Muscle Weakness Affecting the Lower Limbs
Distal Muscle Atrophy Affecting the Lower Limbs
Mutation in the FREM1 Gene
Mutation in the Type 4 Collagen Alpha 2 Gene
Structural Brain Anomalies
Death Usually in Childhood
Mutation in the Solute Carrier Family 33 Member 1 Gene
Wide Subarachnoid Spaces
Inability to Sit or Walk Independently
Liver Enzymes Decrease with Age
Triglycerides Decrease with Age
Mutation in the Glycerol-3-Phosphate Dehydrogenase 1 Gene
Lipoprotein Levels Abnormal
Urine Dicarboxylic Acid Transiently Increased
Transient Hypertriglyceridemia
Septal Formation
Hypoplastic Left Ventricle
Unbalanced Atrioventricular Septal Defect
Mutation in the ABCC6 Gene
Hypophosphatemic Rickets
Tubular Calcification
Calcification of Renal Arteries
Cutaneous Symptoms Induced by Cold Exposure or Cooling
Symptoms May Decrease after Age 30 Years
Lifelong Occurrence
Onset in First 6 Months of Life
Granulomatous Dermatitis
Mast Cell Count Increased
Cold-Induced Pruritus
Erythema Cold Induced
Positive for Antinuclear Autoantibodies
Circulating NK Cells Decreased
Defective B Cell Class-Switching
Circulating B Cells Decreased