23901 to 24000 most common queries

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

• Proximal Limb Weakness Followed by Distal
• Caused by Mutation in the Cofilin 2 Gene
• Minicores or Core-Like Regions May Be Present
• Dystrophic Features (Later Symptom; Muscle Biopsy)
• Fiber Type Variation Seen on Biopsy
• Caused by Mutation in the F12 Gene
• Episodic Laryngeal Swelling
• Episodic Respiratory Compromise due to Swelling
• Episodic Facial Swelling
• Episodic Abdominal Pain
• Episodic Intestinal Edema
• Episodic Swelling of the Hands and Feet
• Respiratory Muscle Weakness May Occur
• Breathing Difficulties Due to Choanal Atresia
• Moderate Atrophy of Optic Disc
• Rod and Cone Responses Undetectable (ERG)
• Mutation in the RNASEH2A Gene
• Cerebrospinal Fluid Interferon Increased
• No Evidence of Prenatal Infection
• Anteriorly Rotated Ears
• Cerebrospinal Fluid Pterin Levels Elevated
• Cerebrospinal Fluid Interferon Levels Elevated
• Chorda Penis
• Mild Decrease in Mitochondrial Respiratory Chain Activity
• Severe Photophobia
• Abnormal Fibrils in Stroma (EM)
• Congenital Fibrosis of the Extraocular Muscles
• Contralateral Hemianopsia
• Variable Penetrance
• Inferonasal Iris Coloboma
• Mild Hearing Loss
• Bilateral Hypoplastic Oculomotor Nerves
• Oculocutaneous Hypopigmentation
• Marcus Gunn Jaw Winking
• Extraocular Muscle Fibrosis
• Restricted Eye Movement
• Cataracts Present at Birth or Develop in Infancy
• Prevalent in Quebec
• May Result in Early Death from Severe Diarrhea
• Very Long Chain Fatty Acids Increased
• Loss of Purkinje Cells in the Cerebellum
• Late Onset Dysphagia
• Vital Capacity Decreased due to Muscle Weakness
• Vital Capacity Restricted
• Highly Variable Intrafamilial Severity
• Mutation in the Tripeptidyl Peptidase 1 Gene
• Cerebellar Atrophy (MRI)
• Low to Moderate Myopia
• Limb Contractures by Age 4-5 Years
• No Neurologic Abnormalities
• Patients Exhibit No Signs of Ocular or Cutaneous Albinism
• Retinochoroidal Coloboma
• Posterior Embryotoxon
• Optic Nerve Misrouting on Visual Evoked Potential Analysis
• Absence of Foveal Pit on Optical Coherence Tomography
• Absence of Foveal and Macular Reflexes
• No Foveal Avascularity
• Absence of Foveal Hyperpigmentation
• Alternating Esotropia
• Mutation in the B4GALNT1 Gene
• Hyporeflexia (Later)
• Upper Limb Involvement
• Retained Nuclei in Stratum Corneum
• Absence of Stratum Granulosum
• Numerous 'Confetti-Like' Scattered Patches of Normal Skin
• Erythematous Ichthyotic Skin with Reticulate Pattern
• De- or Hypo-Pigmented Macules
• Hyperpigmented 2 to 5 mm Macules Mainly on the Extremities
• Wide Variation in Fiber Size
• Decreased Myelination Seen on MRI
• Lack of Situs Inversus
• Microcephaly (7-17 SD)
• Noise Exposure Causes More Severe Hearing Loss at High Frequencies
• Hearing Loss Is Usually Severe by Age 20 Years
• Onset in Second Decade but Sometimes Earlier
• Sparse Axillary and Facial Hair
• Progressive Microcephaly (3 to 5 SD)
• Periventricular Nodular Heterotopia Seen on MRI
• Antithrombin III Deficiency
• Chronic Anemia
• Hypoproteinemia
• Fetal Fat Pads
• Mutation in the TMEM216 Gene
• Loss of Primary Reflexes
• Severe Axial Muscle Weakness with Proximal Predominance
• Osteopenia
• Double Ring Sign of Lens
• Y-Shaped Sutural Cataract
• Postnatal Failure to Thrive due to Gastroesophageal Reflux
• Recurrent Coughing Spasms
• Growth Hormone Low or Absent
• Age of Onset between 20 to 30 Years
• Hearing Loss Progresses to Profound Deafness
• Normal Vestibular Function
• Fat and Fibrous Tissue Increased
• Congophilic Eosinophilic Inclusions
• Muscle Biopsy Shows Atrophy
• Distal Lower Limb Anterior Compartment Weakness
• Variable Age of Onset
• Vibration Sense at the Ankles Impaired