×
This website uses cookies to ensure you get the best experience on our website.
Privacy
Okay
Any Age
years old
years
Any Age
Newborn
Toddler
Child
Teenager
Adult
Senior
Any Sex
25601 to 25700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Subepithelial Fibrosis
Stromal Thinning
Mutation in the ERCC8 Gene
No Increased Sensitivity to Oxidative Species
Some Patients Have Resolution of Symptoms in First Year of Life
Exaggerated Startle Response to Tactile or Acoustic Stimuli
Profound Deafness Affects All Frequencies
Caused by Mutation in the Guanylate Cyclase 2C Gene
Esophagitis with or without Esophageal Hernia
Small Bowel Obstruction due to Ileal Inflammation
Small Bowel Obstruction due to Adhesions
Small Bowel Obstruction due to Volvulus
Electrolyte Disturbances in Infancy
Metabolic Acidosis in Infancy
Dehydration in Infancy
Mild Chronic Early-Onset Diarrhea
Meteorism - Gaseous Distention of the Stomach or Intestine
Reported in Individuals of French Canadian Origin
Brain MRI Shows Molar Tooth Sign
Intracranial Thrombosis
Severe Brachydactyly with Sparing of the Big Toe
Lack of Normal Lumbar Interpediculate Flare
Maxillonasal Hypoplasia
Facial Dysostosis
Incomplete but High Penetrance
Presenting Symptoms in the Upper Body
Mutation in the Mitochondrial Ribosomal Protein L3 Gene
Cortical Hypergyria
Mutation in the COG6 Gene
No Systemic Manifestations
Slow Spike-Wave Discharges
Diffuse Slowing
Generalized Spike-and-Slow-Waves
Speech and Language Regression
Deletion of 1.0-2.5MB on Chromosome 17q12
Mild Nail Hypoplasia
Short Feet
Long Thin Feet
Long Fingers
Long Thin Hands
Short Arms and Legs
Long Slender Arms and Legs
Joint Mobility Decreased
Deviation of Nasal Root
Tubular Nose
Horizontal Nystagmus
Laterally Sparse Eyebrows
Bilateral Sensorineural Hearing Loss
Prominent Earlobes
Hypertrichosis of Upper Lip
Slight Deviation of Maxilla
Mild Facial Asymmetry
Liver Enzymes Elevated
Thin Bladder Wall
Normal Kidneys
Pelvic Dilation
Bilateral Ureteropelvic Junction Stenosis
Hyperechogenic Kidneys or Renal Cysts on Prenatal Ultrasound
Multicystic Dysplastic Kidneys
Duplication of 1.0-2.5 Mb on Chromosome 17q12
Broad Toes
Bilaterally Short Second Fingers
Mild Brachydactyly
Rotational Tongue Movements
Cleft Soft Palate
Large Anteverted Ears
Smooth Philtrum
Hypotonic Facies
Unilateral Megacalicosis
Axial Hypotonia
Cortical Dysplasia Focal
Many Features Are Present Only in an Untreated Patient
Absence of Hip Ossification Centers
Slow Deep Tendon Reflexes
Slow Reactions
Furrowed Facial Skin
Thick Facial Skin
Infantile Airway Compression due to Massive Aortic Aneurysm
Relatively Mild Cutis Laxa and Severe Vascular Abnormalities
Multiple Arterial Stenoses
Venous Tortuosity
Multiple Arterial Aneurysms
Thickened Myocardium
Severe Underdevelopment of Elastic Fibers
Vascularization Increased in Upper Dermis
Small Collagen Bundles
Scarring Normal
Contractures of Third to Fifth Fingers
Generalized Joint Hypermobility
Bulbous Nasal Tip
Fetal Overgrowth
Hypoplastic Diaphragm
Onset Usually in Adulthood
Nerve Conduction Velocities Only Slightly Decreased
Some Patients May Have Normal Brain Imaging
Caused by Mutation in the Beta Acid Glucosidase 2 Gene
Low Sperm Velocity
Abnormal Sperm Head
Small Testicles
Axonal Sensory Polyneuropathy