30101 to 30200 most common queries

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

• Overlapping Features with Barber-Say Syndrome
• Absent Lanugo
• Redundant Folds
• Microblepharon
• Rudimentary External Ears
• Zygomatic Arches Absent
• Aplasia or Hypoplasia of the Nipples
• Tapered Distal End of Hair
• Twisted Hair Shaft
• Mutation in the EVC2 Gene
• Mutation in the EVC Gene
• Variable Expressivity of Each Feature
• Most Common Inherited Bleeding Disorder
• Variably Expressivity
• Mucocutaneous Bleeding
• Prolonged Bleeding Time due to Quantitative Deficiency of VWF Protein
• Factor VIII Decreased
• VWF Antigen Decreased
• Mutation in the ANKRD26 Gene
• Mutation in the JAK2 Gene
• Mutation in the THPO Gene
• Most Frequent among Black Africans
• Ainhum of Toe (Usually 5th Toe)
• Absence of Lower Incisors
• Hypodactyly
• Caused by Mutation in the Adenylosuccinate-Lyase Gene
• Cupping and Flaring of Costochondral Junctions
• Banded Hair Shafts
• Irregular Cuticles on Hair Shafts
• Mutation in the TMEM16E Gene
• Favorable Response to Riboflavin
• Long Chain Acylcarnitine Species Elevated
• Hypoketotic Dicarboxylic Aciduria
• Caused by Mutation in the Transcription Factor 4 Gene
• Thick, Indurated Skin
• Relative Short Stature
• Diffuse Entrapment Neuropathy
• Short Trunk Dwarfism Identifiable at Birth
• Caused by Mutation in the CREB-Binding Protein Gene
• Antecubital Webbing
• Limited Elbow Extension with Normal Elbow Flexion
• Posterior Subluxation of the Radial Head
• Caused by Mutation in the Homeobox HB9 Gene
• Paradoxical Sweating Response
• Ratio Female to Male 19:10 in Index Family
• Late-Onset Corneal Degeneration
• Variable Severity of Brain Malformations
• Death in Infancy in 2 Patients
• Mutation in the GLUL Gene
• Necrotic Epidermolysis
• Blistering Erythematous Rash
• Glutamine in Bodily Fluids Decreased
• Micromelia
• Small Smooth Cerebellum
• Attenuated Gyri
• Onset Usually by Age 2 Years
• Mild to Moderate Neck Muscle Weakness
• Mild to Moderate Facial Muscle Weakness
• Mild to Moderate Muscle Weakness of the Face and Neck
• Mild to Moderate Proximal Limb Muscle Weakness
• Corpus, Tail and Uncinate Process Absent
• Pancreatic Head Enlarged
• Susceptibility to Diabetes Mellitus
• Mutation in the Aggrecan Gene
• Brachydactyly in the Distal Phalanx of the First and Third Digits
• Slightly Shorter Metacarpal Bones II, III, and IV
• Numbness of the Little Finger and Ulnar Half of the Ring Finger
• Broadening of the Head of the Radius
• Flattening of the Capitulum of the Humerus
• Loss of Movement in the Knees
• Loss of Movement in the Elbows
• High Ratio between Sitting Height and Total Height
• Low Intervertebral Discs in Thoracic and Lumbar Spine
• Polyarticular Villonodular Synovitis
• Mutation in the Uromodulin Gene
• Caused by Mutation in the Collagen VI Alpha-2 Polypeptide Gene
• Mutation in the COL6A1 Gene
• Exaggerated Oral Rugae and Frenula
• Intraoral Mucosal Overgrowth
• Progressive Thickened Lips
• Thickened Upper Eyelids
• Large, Doughy Hands
• No Facial Weakness
• Muscle Biopsy Shows Core-Like Regions Devoid of Oxidative Activity
• Loss of Myofibrillar Organization (Muscle Biopsy)
• Muscle Biopsy Shows Type 1 Fiber Predominance and Hypertrophy
• Progressive Fatty Infiltration of Muscle
• Poor Exercise Tolerance
• Slow Motor Responses to Sudden Events like Falling
• Limb Muscle Weakness Proximal Upper and Lower
• Gait Abnormalities due to Muscle Weakness
• Mitochondrial Abnormalities in Nerve Biopsy
• Pyramidal Features
• Non-Robertsonian Constitutional Translocation t(11;22)(q23;q11.2)
• Infantile Onset with Hepatic Involvement
• Rapidly Progressive Neonatal Onset with Early Death
• Mutation in the CD3D Gene
• Mutation in the IL7R Gene
• Serum Immunoglobulins May Be Absent, Normal or Increased
• Number of Peripheral Blood B Cells Normal or Elevated