21401 to 21500 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• 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
• Lack of Normal Lumbar Interpediculate Flare
• Maxillonasal Hypoplasia
• 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
• Generalized Spike-and-Slow-Waves
• Deletion of 1.0-2.5MB on Chromosome 17q12
• Mild Nail Hypoplasia
• Short Feet
• Long Toes
• Long Fingers
• Long Thin Hands
• Long Slender Arms and Legs
• Joint Mobility Decreased
• Deviation of Nasal Root
• Tubular Nose
• Bilateral Sensorineural Hearing Loss
• Prominent Earlobes
• Hypertrichosis of Upper Lip
• Slight Deviation of Maxilla
• Mild Facial Asymmetry
• Liver Enzymes Elevated
• Normal Kidneys
• Bilateral Ureteropelvic Junction Stenosis
• Hyperechogenic Kidneys or Renal Cysts on Prenatal Ultrasound
• Multicystic Dysplastic Kidneys
• Autism or Autistic Features
• Duplication of 1.0-2.5 Mb on Chromosome 17q12
• Bilaterally Short Second Fingers
• Mild Brachydactyly
• Rotational Tongue Movements
• Large Anteverted Ears
• Unilateral Megacalicosis
• Cortical Dysplasia Focal
• Many Features Are Present Only in an Untreated Patient
• Absence of Hip Ossification Centers
• Furrowed Facial Skin
• Infantile Airway Compression due to Massive Aortic Aneurysm
• Relatively Mild Cutis Laxa and Severe Vascular Abnormalities
• Multiple Arterial Stenoses
• 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
• 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
• Vibratory Sense in the Lower Limbs Decreased
• Caused by Mutation in the Ventral Anterior Homeobox-1 Gene
• Bilateral Cleft Palate
• Bilateral Small Optic Nerve
• Severe Bilateral Microphthalmia
• Head Circumference <3rd Percentile
• Height in Third Centile
• Vertical Orientation of Hippocampus
• Some Patients May Not Achieve Walking
• Death May Occur in Childhood due to Respiratory Failure
• Focal Z-Band Disarray Devoid of Mitochondria (EM)
• Minicores
• Myopathic Changes in Affected Muscle (EMG)
• Some May Not Achieve Ambulation
• Described in Families from Galicia, Spain
• Horizontal Gaze Nystagmus
• Hearing Loss Progressive
• Chronic Denervation Seen on Skeletal Muscle Biopsy
• Distal Skeletal Muscle Atrophy (Late Symptom)
• Fasciculations (Late Symptom)
• Dystrophy of Free Margin of Fingernails
• Peripheral Pulmonary Stenosis
• Death in Childhood May Occur Due to Infection
• Normal Numbers of Absolute B Cells
• Joint Hyperlaxity
• Mutation in the Hepatic Lipase Gene
• Mutation in the MER Tyrosine Kinase Protooncogene
• Autofluorescent Dots in Posterior Pole
• Electroretinographic Responses Decreased or Non-Recordable
• Wrinkled Appearance of Inner Retina
• High Reflectivity of Fundus
• Pigment Mottling in Mid Periphery
• Bone Spicule Pigment Depositions
• Intraretinal Pigment Deposition Extending to Posterior Pole