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33401 to 33500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Cerebrospinal Fluid Pyridoxal 5'-Phosphate Decreased
Cerebrospinal Fluid Pyridoxal Decreased
Cerebrospinal Fluid Arginine Decreased
Cerebrospinal Fluid Histidine Increased
Cerebrospinal Fluid Taurine Increased
Increased CSF Threonine
Cerebrospinal Fluid 3-Methoxytyrosine Increased
Urine Vanillactic Acid Increased
Plasma Arginine Decreased
Plasma Threonine Normal to Increased
Plasma Glycine Normal to Increased
Response to Pyridoxal Phosphate
Partial Response to Pyridoxine
Neonatal Epileptic Encephalopathy
Thick, Maloriented Superior Cerebellar Peduncles
Mutation in the CEP290 Gene
No Cerebellar Vermis Aplasia or Hypoplasia
Anomalous Origin of Right Pulmonary Artery
Diabetes Mellitus Type 1 Developed in Some Patients
2:1 Female Preponderance
Adult Onset Punctate Cortical Cataract
Congenital Cataract (Nuclear, Sutural, or Stellate Cortical)
Phenotype May or May Not Be Consistent within a Family
Mutation in the Fukutin Gene
Homozygosity: More Severe Phenotype
Autosomal Recessive Inheritance Can Occur
One Third of Cases Are Familial
Benign Tumors of the Eye, Heart, and Lungs
Cortical Tubers
Subependymal Nodules
Hamartomatous Lesions of the Brain
Short, Dysplastic Ulnae
Short Dysplastic Radii
Severe Radial Bowing
Severe Mesomelia - Only Arms
Aberrant Origin of Vertebral Artery
Rudimentary to Absent Tibia
Irregular, Thin Ribs
Single Fallopian Tube
Mutation in the Ras Associated Protein RAB23 Gene
Fingerprint Profiles (Ultrastructural Analysis)
Caused by Mutation in the CLN2 Gene
Mutation in the R Spondin Family Member 4 Gene
Onset in Neonatal Period or Infancy
Possibly Phosphate and Calcitriol Increased (Heterozygotes)
Mutation in the GALNT3 Gene
Renal Tubular Phosphate Reabsorption Increased
FGF23 Increased
1,25-Dihydroxycholecalciferol - Calcitriol - Normal to Elevated
Progressive Deposition of Basic Calcium Phosphate Crystals
Ectopic Painful Periarticular Calcified Masses
Swirled Radicular Dentin Deposits
Short Blunt Tooth Roots
Disturbed Root Development
Obliterated Tooth Pulp Cavities
Conjunctival Whitish Salt-Like Deposits
Calcinosis of the Renal Parenchyma
Renal Tubular Phosphate Excretion Decreased
Profound Sensorineural Deafness
Environmental Triggers - Cold and Wet Exposure
No Raynaud Phenomenon
Subungual Lesions
No Cutaneous Photosensitivity
Healed Areas Are Atrophic and Hypopigmented
Painful Bluish-Red Papules or Nodules
Present in Jewish Yemenite Population
Mutation in the Sterile Alpha Motif Domain Containing Protein 9 Gene
Massive Calcium Deposition in Mid and Lower Dermis
Calcified, Ulcerating Nodules
Erythematous Papular Skin Eruption
Myelosuppression Develops on Standard Doses of Thiopurine Drugs
Decreased Metabolism of Thiopurine Drugs
Activity of Thiopurine-S-Methyltransferase Decreased
Mutation in the Phosphodiesterase 11A Gene
Fibrofatty Replacement of Right Ventricular Myocardium
Possibly Mild Manifestations of Cushing Syndrome
Onset in Childhood or Young Adulthood
Mutation in the PRKAR1A Gene
Adrenal Glands Normal, Atrophic, or Slightly Enlarged
ACTH-Independent Hypercortisolemia
Mutation in the Mitochondrial Ribosomal Protein S16
Choreoretinal Coloboma
Abnormal Toenails
Slender Ulnae
Pouty Lower Lip
Height Less than 5th Percentile
Overriding of the First Toe
EMG Shows Denervation
Progressive Distal and Proximal Symmetric Limb Weakness
Protruding Fissured Tongue
Hallucinatory Psychosis Develops during Adolescence
Motor and Sensory Nerve Conduction Velocities Decreased
Hypomyelinated Fibers
Axon Degeneration and Regeneration
Sural Nerve Biopsy Shows Absence of Large Myelinated Fibers
Severe Peripheral Sensory Neuropathy
Severe Peripheral Motor Neuropathy
Axonal Swelling of Spinal Nerve Roots and Cranial Nerves
Support Standing or Walking Ability by 4-6 Years of Age
Variable Expressivity, Patients Possibly Clinically Asymptomatic