×
This website uses cookies to ensure you get the best experience on our website.
Privacy
Okay
Any Age
years old
years
Any Age
Newborn
Toddler
Child
Teenager
Adult
Senior
Any Sex
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