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27401 to 27500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Self-Harming Behaviors
Sleep-Wake Cycle Disturbed
Lack of Independent Ambulation
Epileptic Encephalopathy
Developmental Regression after the First Year
Mutation in the PSMC3 Interacting Protein Gene
Underdeveloped Pubic Hair
Androgen Levels Normal
Progesterone Undetectable
Estradiol Non-Detectable
Luteinizing Hormone Levels Elevated
Benign Condition
May Fade with Age
Lesions Grow and Spread with Age
No Preceding Skin Inflammatory Stage
Numbers of Melanosomes in Keratinocytes Increased
No Incontinence of Pigment
No Melanophages
Mild Elongation of the Rete Ridges
Increased Melanin in Basal Layer
Numbers of Basal Melanocytes Normal or Mildly Increased
Hyperpigmented Whorls
Hyperpigmented Streaks Following Lines of Blaschko
Mild Eosinophilia May Occur
Onset of Seizures between 9 and 12 Months of Age
Mutation in the Caveolin 3 Gene
Benign Palpitations
Absence of Caveolin-3 Staining
Distal Muscle Weakness Particularly Affecting the Hands
Acute Encephalopathic Episodes May Occur
C26 Bile Acid Intermediates Increased
Phytanic Acid Normal or Increased
No Liver Disease
White Matter Hyperintensities in Various Brain Regions
Mutation in the SCN8A Gene
Attention Deficit - Hyperactivity Disorder
Brain MRI Shows Cerebellar Atrophy
Mutation in the LRP4 Gene
Radial Deviation of Distal Phalanx
Bony Syndactyly of Digits
Cortical Hyperostosis of Long Bones
Sclerotic Pelvic Bones
Sclerotic Vertebral End Plates and Pedicles
Enlarged, Sclerotic Mandible
Facial Asymmetry due to Facial Nerve Palsy
High Stature
Wide, Dense Ribs
Wide and Dense Clavicles
Spastic-Ataxic Tetraparesis
Caused by Mutation in Micro-RNA 184 Gene
Slightly Eccentric Pupils
Endothelial Corneal Dystrophy
Anterior Polar Cataract - Congenital or Early Onset
Severe Anterior Keratoconus
Corneal Thinning and Steepening
Caused by Mutation in the Adenosine Kinase Gene (ADK)
Cardiac Defects
Urine Adenosine Increased
S-Adenosylhomocysteine Increased
S Adenosylmethionine Increased
White Matter Degeneration
Axonal Motor Neuropathy (in about 50%)
Loss of Myelin in the Pyramidal Tracts
Tau-Containing Inclusions
Progressive Congenital Sensorineural Hearing Loss
Biparental Complete Hydatidiform Mole
Mutation in the LEPREL1 Gene
Lens Instability
Mutation in the Alpha 2 Subunit of Collagen Type 9 Gene
Average Adult Height
Only 46,XY Karyotypes Are Affected
Rudimentary Mullerian Structures
Increase in Pregnanediol and Pregnanetriol after ACTH Stimulation
Marked Increase in Pregnanetriolone after HCG or ACTH Stimulation
No Increase in Testosterone after HCG or ACTH Stimulation
Urine Pregnanetriolone Detectable
Baseline Pregnanediol and Pregnanetriol Normal
Urine 17-Hydroxycorticoids Normal
Urine 17-Oxosteroids Normal
Urine Estrogens Low
Urine Gonadotropins Elevated
Trigger Deformity of the Fingers
Joint Contractures of the Hips Knees Hands and Elbows
Variable Cardiac Defects
Seizures Usually Occur in the First Months of Life
Abnormal Hair Whorls
Multiple, Small, Diffuse Capillary Malformations
Abnormal Toe Positioning
Brain Imaging Shows Enlarged Extraaxial Space
Simplified Cortical Gyral Pattern
Mutation in the FAM20A Gene
Favorable Response to Levodopa
Onset in Late Teens to Early Forties
Caused by Mutation in the Myelin-Oligodendrocyte Glycoprotein
Sleep Latency Decreased
Diabetes Type 2
Microcephaly - About 3 SD below the Mean
Few and Small Islets of Langerhans
Infantile Diabetes Mellitus
Broadening of First Rays