27901 to 28000 most common queries

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

• Large Birth Size
• Bilateral Renal Hamartomas
• Mutation in the PEX2 Gene
• Episodic Bleeding
• Defective Bile Acid Metabolism
• Peroxisome Deficiency
• Accumulation of Pipecolic Acid
• Di- and Trihydroxycholestanoic Acid Accumulation
• Very Long Chain Fatty Acid Accumulation
• Phytanic Acid Accumulation
• Radioulnar Synostosis
• Possibly Lethal in Neonatal Period
• Urine, Sweat, Saliva and Stool Sodium Markedly Elevated
• Usually Neonatal or Infantile Death
• Mutation in the RIPK4 Gene
• Skin Tags on Genitalia
• Skin Tags on Palms
• Bilateral Pterygia
• Bilateral Pterygium of Wrist
• Bilateral Pterygium of Elbow
• Bilateral Inguinal Pterygium
• Bilateral Axillary Pterygium
• Bilateral Popliteal Pterygium
• Oligosyndactyly of Toes
• Thumb Aplasia
• Bony Synostosis
• Hypoplasia of Iliac Wing
• Filiform Bands between Mandible and Maxilla
• Eyelid Colobomata
• Medial Canthal Webbing
• Absent Eyelashes
• Eyebrows Absent
• Low-Set Umbilicus
• Asymmetric Nipples
• Bilateral Cryptorchidism
• Clitoris Absent
• Hypoplastic Genitalia
• Mutation in the Never in Mitosis Gene A-Related Kinase 1 Gene
• Malformed Larynx
• Hallucal and Postaxial Polysyndactyly
• Markedly Stunted and Disorganized Endochondral Ossification
• Glomerular and Renal Tubular Cysts
• Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency
• Defects in Executive Function
• Social Sensitivity
• Attention Deficit Disorder - in Those Who Stop Treatment
• Self Mutilation if Left Untreated
• Aggression (if Untreated)
• Autistic Features if Left Untreated
• Hyperactivity (if Untreated)
• Psychosis if Left Untreated
• Mental Processing Speed Decreased
• Nystagmus is Often the Presenting Sign
• Progressive Joint Contractures
• Slow Pupillary Reflexes
• Pale Ocular Fundus
• Horizontal or Rotary Nystagmus
• N-Acetylaspartate Decreased
• Brain MRI Shows Arrest in Myelination
• No Speech Acquisition
• Most Patients Require Ambulatory Aids about 10 Years after Onset
• Adult Onset - 40s
• Caused by Mutation in the Transglutaminase 6 Gene
• Saccadic Slowing
• Cerebellar Ataxia - Upper and Lower Limbs Affected
• Short, Bulbous Nose
• Thick Earlobes
• Deep Prominent Philtrum
• Body Habitus Becomes Apparent in Childhood
• Mutation in the PLIN1 Gene
• Cervical Adipose Tissue Normal
• Normal Facial Adipose Tissue
• Adipose Fibrosis Increased
• Biopsy of Adipose Tissue Shows Reduced Adipocyte Size
• Lipoatrophy of Trunk
• Cushingoid Appearance
• Ovarian Hyperandrogenemia
• Mutation in the Homolog of the Rat Nexilin Gene
• Left Ventricular Anterior Wall Hypertrophy
• Asymmetric Interventricular Septal Hypertrophy
• Mutation in the Calreticulin 3 Gene
• Mutation in the PLN Gene
• Death Usually at Age <2 Years
• Onset in First 8 Weeks of Life
• Granular Deposits in the Sarcomeres
• Z-Band Streaming
• Eosinophilic Inclusions
• Endomysial Fibrosis
• EMG Shows Increased Insertion Activity and Fibrillation
• Electroretinography Responses Nondetectable
• Cystoid Macular Edema
• Retinal Blood Vessels Attenuated
• Central Islands of Vision Only
• Peripheral Vision Reduced
• Night Vision Impaired
• Visual Acuity Ranges from 20/20 to Light Perception Only
• Cleft Lip and-or Palate
• Hyperextensibility of the Interphalangeal Joints
• Mild Bone Deformities
• Repeated Bone Fractures