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28901 to 29000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Cortical Dysplasia
Simplified Cortical Gyration Pattern
Possibly Death in Early Infancy
Small, Turned-up Nose
Poor Feeding in Early Life
Muscle Weakness after Cooling or on Warming Affected Muscle
Favorable Response to Minocycline or Azithromycin
Mode of Inheritance is Unclear
Onset in Teenage or Young Adult Years
Squat Papillomatosis
Epidermal Undulation
Confluent, Centrally Erythematous (Later Brown) Papillomatosis
Peripheral Reticular Papillomatosis, 1-2 mm, Growing and Coalescing
Onset of Skin Changes in Childhood
Caused by Mutation in the LEM Domain-Containing-Protein-3 Gene
Collagen-Rich Connective Tissue Nevi
Elastin-Rich Connective Tissue Nevi
Subcutaneous Connective Tissue Nevi
Subcutaneous, Non-Tender, Firm Nodules
Mutation in the Collagen I Alpha 2 Polypeptide Gene
Mutation in the COL1A1 Gene
Opalescent Teeth
Dentinogenesis Imperfecta
Normal Teeth
Tongue Weakness
Highly Variable Severity of Muscle Weakness
Other Muscles Become Involved about 5 Years after Onset
Ptosis Is Usually Presenting Feature
Mean Age at Onset 22 Years
Recurrent Pneumonia due to Aspiration
Restrictive Ventilatory Defect
Weight Loss due to Dysphagia
Creatine Kinase Normal or Increased
Angulated Fibers
Variation in Fiber Size Seen on Muscle Biopsy
Myogenic Changes (EMG)
Facial Muscle Atrophy
One Patient with Severe Congenital Onset Reported
Mutation in the SPTLC1 Gene
Variable Motor Involvement
Autonomic Involvement Is Variable
Lower Limbs More Severely Affected than Upper Limbs
Thickening of the Skull
Ossification of the Falx Cerebri
Subcortical White Matter Lesions in the Temporal Lobes (MRI)
Mild Facial Muscle Weakness
Allelic to Myosin Storage Myopathy
Mutation in the MYH7 Gene
Abnormalities in Myofibril Organization
Cores or Minicores
Sarcoplasmic Inclusions
Fiber Type Grouping
EMG Shows Myopathic or Neurogenic Changes
Non-Progressive or Very Slow Progression
Type 2 Muscle Fiber Predominance
Hip Abductor Weakness and Atrophy
Patellar Reflexes Decreased
Difficulty Running and Climbing Stairs
Disorder Usually Remains Stable over Time
Pain or Cramping during Sustained Manual Activity
Abnormal Corticospinal Tract Decussation
Writing Fatigability
Difficulties in Fine Bimanual Activities
Involuntary Mirror Movements (Upper Limb, Hand)
Thick, Everted Lower Lip
Wide Mouth
Open Mouth
Large Prominent Nose
Small Bulbous Nose
Abnormality of the Ear
Large Simple Ears
Small Ears with Large Lobules
Outer Ear Abnormalities
Postnatal Growth Retardation
Short Stature - Deletion Patients
Sleep Abnormalities
Segmental Distribution Often Affecting One Limb
Sclerotic Soft Tissue Over Affected Bones
Skin Atrophy Over Affected Bones
Caused by Mutation in the GATA-Binding Protein-4 Gene
Cardiac Valve Insufficiency
Atrioventricular Septal Defect
Pulmonary Valve Thickening or Stenosis
Caused by Mutation in the Desmoglein 4 Gene (DSG4)
Beard, Axillary and Pubic Hair Usually Normal
Eyebrows and Eyelashes May Be Sparse
Short Sparse Hair on Scalp
Fragile Hair that Breaks Easily
Trichoschisis
Elliptical Nodes
Marked Swelling of Precortical Region
Hair Shafts Often Coiled Within Skin
Abnormal Hair Follicles with Thin Atrophic Shafts
Pruritus in Affected Areas
Erythema in Affected Areas
Marked Variability in the Deletion Size
Straight Eyebrows
Obesity - after Infancy
Decreased Caveolin 3 Expression Seen on Muscle Biopsy
Dystrophic Changes Seen on Skeletal Muscle Biopsy