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30801 to 30900 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Hypoplasia or Agenesis of the Semicircular Canals
Absence or Hypoplasia of the Anterior Limb of the Internal Capsule
Pachygyria (Posterior to Anterior Gradient)
Mutation in the Sonic Hedgehog Gene
Recurrent Respiratory Infections due to Impaired Ciliary Motility
Axonemes Show Normal Structure
Cilia Show Nonflexible and Hyperkinetic Beating of Axonemes
Male Fertility Remains Intact
Monthly to Yearly Episodes, Frequency Decreases with Age
Symptoms Precipitated by Exercise and Excitement
Normal Interictal Neurologic Examination
Intermittent Aminoaciduria
Mild Methylglutaconic Aciduria
Dark Pigmentation of Knees and Dorsum of Hands and Feet
Hyperkeratosis, Particularly on Palms and Soles
Loose Skin at Birth
Frontal Polymicrogyria
IGF-1 and IGFBP-3 Decreased
Response to Diphenhydramine
Positive Skin-Test Reaction to Seminal Fluid
Labial Urticaria
Stinging, Burning Vaginal Pain during or after Coitus
Clinical Variability Seen in Waardenburg Syndrome Type 1
Mutation in the PAX3 Gene
Nasal Bone Length Decreased
Lower Lacrimal Dystopia
Intercanthal Distance Increased
Laterally Displaced Inner Canthi - Dystopia Canthorum
Philtrum Length Decreased
Absent Vagina
Mutation in the Microphthalmia-Associated Transcription Factor Gene
Friendly Personality
Poor Visual Spatial Construction
Reddish Hair
Bright Copper Red Hair in Darker-Skinned Individuals
Mild Hypopigmentation
Freckled Skin
Bright Copper-Red Coloration of Skin (in Darker Skinned Individuals)
Tyrosinase Normal
Dilution of Color of Iris
Retinal Pigment Present
Red Reflex on Transillumination of the Iris
Premature Heart Disease
Distal Loss of Facial Hair
Deficient Efflux of Intracellular Cholesterol
Accumulation of Cholesterol Esters in Various Tissues
Apolipoprotein A-1 Decreased or Absent
Enlarged, Yellow-Orange Tonsils
Facial Diplegia due to Peripheral Neuropathy
Pain and Temperature Sensation Loss
Syringomyelia-Like Syndrome
Mutation in the Glutaredoxin 5 Gene
Ringed Sideroblasts on Bone Marrow Aspirate
Anemia - Not Responsive to Pyridoxine Supplementation
Increased Risk of Early Death
Risk of Thrombosis Increased
Arterial Vessels Show Fragmentation of the Internal Elastic Membrane
Arteries Elongated - Large and Medium-Sized Arteries Including Aorta
Arterial Tortuosity (Large and Medium-Sized Arteries, Including Aorta)
Bruisability Not Increased
Bowel Necrosis due to Thrombosis
Right Ventricular Hypertrophy (Reported in 2 Sibs)
Structural Cardiac Defects
Severe Bleeding after Biopsies
Fractures at Birth
B and T-Cell Defects (Reported in 2 Sibs)
Recurrent Febrile Illnesses
Portal Tract Fibrosis
Pigmentary Deposits
Bile Duct Abnormalities
Chronic Vaginal Candidiasis
Acute Hypoketotic Hypoglycemic Episodes
Responsive to Carnitine Supplementation
Onset in Infancy of Acute Hypoglycemic Episodes
Mutation in the Solute Carrier Family 22 Member 5 Gene
Fatty Infiltration of Heart Muscle
No Ketosis
Carnitine in Serum, Muscle, Heart, and Liver Decreased
Urine Carnitine Increased
Muscle Biopsy: Lipid Deposition
Delay in Gross Motor Development due to Weakness
Hypoglycemia-Associated Encephalopathy
Lethargy Associated with Hypoglycemia
Mutation in the Myosin Va Gene
Mostly Sporadic, Rarely Somatic and Germline Mosaicism
Bifid Femur
Ulnar Hypoplasia
Hypoplastic Semicircular Canals
Chewing and Swallowing Difficulties
Intellectual Function May Be High in Milder Cases
Characteristic Facial Features Become More Apparent with Age
Small Lungs
Elastic Fibers Degenerated
Thin or Fragmented Elastic Fibers
Number of Elastic Fibers Reduced
Prominent Superficial Blood Vessels due to Thin Skin
Thin Translucent Skin
Skin Abnormalities Tend to Decrease with Age
Sparse Brittle Hair
Amount of Elastin Decreased