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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