32201 to 32300 most common queries

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

• Most Patients Die from Heart Failure
• Symptoms May Be Aggravated by Acute Illness
• Mutation in the HADHA Gene
• Low Output Cardiomyopathy
• Acylcarnitines Increased
• Episodic Rhabdomyolysis
• Slowly Progressive Limb Girdle Myopathy
• Sensorimotor Axonopathy
• Caused by Mutation in the Plakophilin 2 Gene (PKP2)
• Hip Replacement in Early Adulthood
• Onset of Joint Pain in Childhood
• Hypoplastic or Dysplastic Toes (3rd-5th)
• Osteochondromatosis - Knee
• Elongated Vertebrae
• Progeroid Appearance
• Phytanic and Pristanic Acid Normal
• Distal Muscle Atrophy due to Neurologic Disease
• Does Not Lead to Hepatic Failure
• Pneumatocele Formation
• Cold Abscesses Lacking Erythema, Heat, and Swelling
• Resorption of Primary Tooth Roots Reduced
• Thickening of the Soft Tissue of the Nose
• Mild Prognathism
• Most Common Muscle Disease in Older Persons
• Congophilic Inclusions
• Muscle Biopsy Shows Inflammation with T Cells
• Muscle Atrophy Especially Quadriceps and Forearm Muscles
• During Pregnancy, Mostly in Third Trimester
• No Chronic or Permanent Liver Damage
• Eyelash Abnormality
• Nonspecific Granular Appearance of Retinal Pigment Epithelium
• Mild Transient Cherry Red Spot
• Anomalous Extraocular Muscles
• Iris Discoloration
• Triangular Face Later in Life
• Round Face Early in Life
• Corneal Sensitivity Impairment - Hypesthesia
• Partially Reduced Visually Acuity
• Alacrima
• Intrafamilial Variation
• Subluxation or Fusion of the Cervical Vertebrae
• Malformations of the Auditory Ossicles
• Allelic to Noonan Syndrome
• Mutation in the Lamin A-C Gene
• No Lipodystrophy in Face and Neck
• Tomaculae (Paranodal Myelin Swellings)
• Enlarged Peripheral Nerves
• Haploinsufficiency of RPS14
• Contiguous Gene Deletion Syndrome of 5q31
• Somatic Deletion of an Allele of the RPS14 Gene
• Medullary Blast Count <5%
• Hypolobulated Megakaryocytes in the Bone Marrow
• Platelet Count Normal or Increased
• High-Frequency Sensorineural Deafness
• Bilateral Sensorineural High Frequency Deafness
• Mutation in the FXYD2 Gene
• Renal Calcium Excretion Decreased
• Mutation in the MBD5 Gene
• Social Interactions Limited
• Non-Febrile Seizures Later
• Febrile Seizures in Infancy
• Patients Walk on Tips of Toes with Dorsal Foot Deviated Laterally
• Fibulo-Calcaneal Complex
• Tibia-Talus Complex
• Malformed Talus
• Malformed Calcaneus
• Normal Metacarpals
• Ulnar Deviation of Hands
• Tibial Fibula Synostoses
• Shortened Fibula
• Broad Severely Shortened Ulna
• Broad, Shortened Radius
• Approximately Half of Cases Are due to De Novo Deletions
• Caused by Deletion of Chromosome 9p
• Congenital Cardiac Malformations
• Brown or Blond Hair
• Small Palpebral Fissures
• Elevated Androstenedione
• Unilateral Renal Aplasia
• Absent or Rudimentary Uterus
• Caused by Contraction of a D4Z4 Repeat Array at Chromosome 4q35
• Restrictive Pulmonary Dysfunction
• Wheelchair Dependency in 20% of Patients by Age 40
• Foot Extensor Muscle Weakness (Later Onset)
• Abdominal Wall Muscle Weakness (Later Onset)
• Upper Arm and Pelvic Muscle Weakness and Atrophy
• Facial Muscle Weakness and Progressive Atrophy
• Macular Exudates and Hemorrhages
• Retinal Vasculopathy
• Facial Muscle Weakness and Atrophy
• Platyspondyly of Thoracic Vertebrae
• Congenital Joint Contracture (Elbows and Knees)
• Caused by Mutation in the Tropomyosin 2 Gene
• Abnormal Irregular Myofibrillar Network
• Mutation in the C10ORF2 Gene
• Curled Eyelashes
• High-Arched Dense Eyebrows
• Caused by Mutation in the KIAA1279 Gene
• See also More Severe Phenotype of Peeling Skin Syndrome
• Skin Peeling Exacerbated by Heat Friction and Humidity