40001 to 40100 most common queries

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

• Absent Gonad Activity
• Mild Myopia
• Iliac Femoral Tibial and Popliteal Artery Calcification
• Mutation in the Mitochondrial Ribosomal Protein S16
• Mutation in the Gene Encoding Desmoglein 1
• Inferior Rib Flaring
• Onset of Symptoms in First or Second Decade of Life
• Defective Glycosylation of Alpha Dystroglycan Seen on Biopsy
• Loss of Motor Functions
• Xanthelasma
• Plantar Overgrowth
• Pigmentation of Hair Bulbs upon Incubation with Tyrosine
• Numbness in the Buttocks
• Visual Field Defects (Middle Age)
• Intelligence Low to Normal
• Onset at Age 3-5 Years
• Brain MRI Shows Hypoplastic Pituitary
• Whitish Discoloration
• Mitral Valve Ring Calcification
• Mutation in the Shugoshin-Like Protein 1 Gene
• Distal Myopathy
• Snow Shoveling
• Widened Subarachnoid Spaces
• Irides Blue Gray to Light Brown
• Macrodactyly
• Rarely Produces Clinical Jaundice
• Some Patients May Show Normal Early Development
• Agyria
• Choreoretinal Coloboma
• Deletion of 3.0-30.0 Mb on 14q11-q22
• Lower Motor Neuron Dysfunction
• Onycholysis Mild
• Frontal Cortical Atophy
• Periarticular Joint Capsule Calcifications
• Female Carriers May Be Mildly Affected
• Left Atrial Dilation
• Ectodermal Symptoms
• Gene Frequency in Northwest Puerto Rico 1 in 18
• Atypical Absence Seizure
• Common (up to 7% of the Population)
• Ridging
• Abnormal Toenails
• Brain Stem Hypoplasia
• Triangular Medial Eyebrows with Distal Tapering
• Motor Deterioration in Second Decade
• Palmar Overgrowth
• Optic Disc Hemorrhage
• Chest Wall Pain
• Small but Structurally Normal Cerebral Cortex
• Metacarpophalangeal Calcification
• Hair Color White to Brown
• Focal Onset Aware Seizure
• Partial Deficiency of Factor XIII
• Mild Nail Dystrophy
• Hepatic UDP-Glucuronyl Transferase Activity Decreased
• Hyperpigmented Skin Lesions
• Slender Ulnae
• Long Straight Nose
• Mutation in the Solute Carrier Family 25 Member 1 Gene
• Minimal or Lack of Speech
• Puberty Absent or Delayed
• Dislocated Knees
• Age of Onset 5 to 22 Years
• CDR ≥ 0.7
• Freckles in Sun-Exposed Areas
• Spinal Trauma
• Vascular and Periarticular Calcification of Hands
• Partial Deficiency of Factor XI
• C-Band Karyotype Shows 'Railroad Track' Appearance
• Separation of Keratinocytes in Spinous Layer
• Mutations in the LDLR Gene
• Onset of Seizures after Age 3 Months
• Mild Extraocular Muscle Weakness
• Deep, Sunken Eyes
• Megaspondylodysplasia
• Bilateral Intraocular Pressures Greater than or Equal to 22 mmHg
• Tanning Possible
• 2 Patients Described
• Tendon Calcification (Lateral Ligaments of Knee and Quadriceps)
• Anal Mass
• Mutation in the COL11A1 Gene
• Progressive Distal and Proximal Symmetric Limb Weakness
• Anterior Segment Mesenchymal Dysgenesis
• Planar Xanthomas
• Normal Keratin Intermediate Filaments
• Fragmentation of Smooth Muscle Fiber Architecture
• Small Endplate
• Most Patients Do Not Learn to Sit or Walk
• Prenatal Overgrowth
• Square Prognathic Jaw
• Ankle Pain
• Anterior Chamber Angle Open with Grade III-IV Gonioscopy
• Creamy White Skin
• Intervertebral Disc and Interspinous Ligament Calcification
• Protruding Fissured Tongue
• Arthropathy (Onset Third Fourth Decade)
• Skull Mass
• Translocation of Chromosomes 9 and 13
• Congenital, Progressive, Posterior Polar Cataract
• Thinning of Smooth Muscle Layers