35001 to 35100 most common queries

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

• Small, Membrane-Bound Vacuoles Predominantly in Type 2 Fibers
• Lack of Speech Acquisition
• Dental Abnormality
• High Deoxypyridinoline - Creatinine
• Fragility with Blistering - Neonatal Onset
• Clinical Improvement after 2 to 3 Weeks of Supportive Care
• Megalocornea (Diameter >12 mm)
• Intractable Myoclonic Seizures
• Hypoplasia of the Mesencephalic Tectum
• Mutation in the KITLG Gene
• Leptin Decreased
• Clinically Mimics Congenital Torch Infections (See )
• Active Movements Decreased
• Plasma Alloisoleucine Elevated
• Absence of Anterior and Posterior Fontanelles
• Amylopectinosis (Biopsy)
• Crossbite
• Triggered by Use of Antibiotics
• Delayed Myelination on Brain MRI
• Onset at Day 1 of Life Has Been Reported
• Cortical Dysplasia Focal
• Increased Echo Intensity in Affected Muscles
• Procollagen 1C Peptide Low
• Mean Age at Onset Is 33 Years (Range: 20-60)
• Congenital Absence of the Vermis
• Lytic Cystic Lesions in Appendicular Bones
• Regression of Motor Development
• Folate-Responsive Megaloblastic Anemia
• Thick Nasal Alae
• Nearly Absent Cranial Vault
• Polyglucosan Accumulation
• Diffuse Cerebral Cortical Atrophy
• Swollen Wrist Joints
• Onset Usually at 2 to 6 Months of Age
• Non Caseating Granulomas - Bone Marrow and Lymph Nodes
• Alkaline Phosphatase Normal to Slightly High
• Many Features Are Present Only in an Untreated Patient
• Retain Some Mechanical Adipose Tissue
• Prenatal Diagnosis by Ultrasound
• Allelic Disorder to Limb-Girdle Muscular Dystrophy Type 2B
• Onset at Age 6 Months to 2.5 Years
• Mutation in the MPDZ Gene
• Red-Blind Color Blindness
• Formiminoglutamic Acid Increased
• Primary Hypothyroidism
• Ambulation Due to Muscle Weakness Impaired
• Extreme Microcephaly
• Long Prominent Philtrum
• Absence of Hip Ossification Centers
• Serpentine Thin Tibiae and Fibulae
• Mild Chronic Sialoadenitis
• Walking Delay
• Nearly Complete Absence of Metabolically Active Adipose Tissue
• Sweat Chloride Normal
• Mutation in the MKS1 Gene
• Age at Onset: 15-25 Years
• Patients Show Normal Psychomotor Development
• Abnormal Smooth Pursuit
• Plasma Methionine Low
• Head-Eye-Lag
• Hepatomegaly Associated with Infection
• White Matter Signal Abnormalities in Various Brain Regions
• Movements of the Knee Joints Limited
• Visual Field Decrease
• Earlier Onset May Occur
• Panuveitis
• Elongated Hair Shafts
• Furrowed Facial Skin
• Allelic to Early-Onset Familial Alzheimer Disease
• Insulin-Resistant Diabetes Mellitus at Puberty
• Possibly Afebrile Seizures Later in Life
• Caused by Mutation in the Dysferlin Gene (DYS 603009-0001)
• Diffusion Abnormalities (MRI)
• Hypoplastic Pons
• Impaired Ocular Movements
• Dysmetric Eye Saccades
• Cerebrospinal Fluid Folate Decreased
• Bowing of Lower Extremity Long Bones
• Vascular Abnormality
• Onset Usually in Young Adulthood
• Variable Prenatal Growth Deficiency
• Predominantly Anterior Uveitis
• Thick Follicles
• Mutation in the Matrin 3 Gene
• Seizures Usually Occur Less than 3 Times
• Possibly X-Linked Dominant Inheritance
• Infantile Airway Compression due to Massive Aortic Aneurysm
• Fibrillations in Affected Muscles
• Possibly Onset Later in Childhood
• Immature Brain with No Gyral Development
• Distal Muscle Weakness - Predominantly Lower Limbs
• Onset in Late Childhood to Early Adulthood
• Caused by Mutation in the Alanyl-tRNA Synthetase 2 Gene
• Urine Odor - Maple Syrup
• Bowing of Long Bones in Upper Extremity
• Reversible Renal Failure
• Hair Follicles Penetrate Deep Into Dermis
• Susceptibility Conferred by Mutation in the Alpha 2 Macroglobulin Gene
• Seizures Usually Last <15 Minutes
• Relatively Mild Cutis Laxa and Severe Vascular Abnormalities