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31601 to 31700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Skeletal Muscle Biopsy Shows Reducing Bodies
Hyperextended Neck
Pigmentary Changes Consistent with Retinitis Pigmentosa
Misshapen Sperm with Decreased Motility
Patients Often Wheelchair-Bound 30-40 Years after Onset
Onset between Ages 10 and 25 Years
Decreased Vibratory Sense after Sixth Decade
Upper Limbs May Show Hyperreflexia
Pure Spastic Paraplegia
Systemic Iron Overload due to Ineffective Erythropoiesis
May or May Not Be Responsive to Pyridoxine Treatment
Female Carriers May Be Affected
Macrocytic Anemia in Manifesting Females
Caused by Mutation in the ATR-X Gene
Long Thin Nose
Caused by Mutation in the Emopamil-Binding Protein Gene
Skin Lesions Follow the Lines of Blaschko
Mutation in the L1CAM Gene
Absent or Scanty Eyelashes
Atrophic Thymus
Mucosal Lymphoid Tissue Markedly Reduced
Death due to Rapidly Progressive Pulmonary Fibrosis in Infancy
Rapidly Progressive Interalveolar Fibrosis
IgM and IgA Undetectable
CD56+ Natural Killer Cells Normal
CD19+ B Lymphocyte Count Normal
CD3+, CD4+, and CD8+ T Lymphocytes Decreased
Streak Ovaries with No Discernable Oocytes
Short Sternocleidomastoid Muscle
Widened Nasal Tip
Widened Columella
Multiple Nevi (Face and Torso)
External Rotation of 4th and 5th Toes
Thin Feet
Poorly Defined Palmar Creases
Thin Hands
Microduplication of 3q29
Excessive Hand Creases
Swelling Starts to Fade by Age 30 Years
Progressive with Full Manifestations at Puberty
Papillomatosis of Affected Area
Lymphedema and Swelling of the Distal Lower Limbs
Patients Remain Ambulatory
Coloboma - Iris, Optic Nerve
Hypoplastic Flexion Creases
Second Finger Overlaps with Third Finger
Contracture
Vessel Calcification
Short Stature with Final Adult Height of 150-160 cm
Severe Metatarsus Adductus
Short Forth Metacarpal
Pseudoepiphyses - Middle Phalanges
Camptodactyly (Progressive)
Absent Distal Flexion Creases
Hyperextensible Elbows
Prominent Deltoid Insertion of Humerus
Extension Decreased - Elbows and Knees
Degenerative Hip Disease
Decreased Hip Extension
Transient Cranial Nerve Palsy
Phenotypically Indistinguishable from Hemophilia A
Caused by Mutation in the Coagulation Factor 9 Gene
Overlapping Clinical Spectrum and Allelic to MASA Syndrome
Increased Risk of Testicular Cancer
Most Cases Result from Deletions of the STS Gene
Symptoms Improve during the Summer
Onset in Perinatal Period or Within the First Year of Life
Caused by Mutation in the Steroid Sulfatase Gene
Lesions Often of Brownish Color
Sparing of Flexure Areas Palms and Soles
Usually Symmetrical Skin Lesions
Steroid Sulfatase Activity Decreased or Absent
Vision Is Usually Not Affected
Corneal Opacities on Slit Lamp Examination
Protracted Delivery
MRI Shows T2-Weighted Signals in the Basal Ganglia
Quadriplegic Dyskinesia
Status Dystonicus
Arrest of Psychomotor Development after Seizure Onset
Classic Severe Form Shows Onset at 2 to 3 Months of Age
Long, Triangular Face
Lower Limb Dystonia
Focal Dystonia, Usually of the Hands
Female Carriers May Have Cardiac Defects
Apparently Exocytosis of Material at the Cell Surface
Vertical Nystagmus
Head Oscillations
Allelic Disorder to Androgen Insensitivity Syndrome (AIS)
Mild Symptoms May Occur in Teenage Years
Onset Usually between 30 and 50 Years of Age
Testosterone Decreased or Increased
Secondary Myopathic Features
Mild Peripheral Sensory Neuropathy
Atrophy and Weakness of the Tongue, Jaw and Throat Muscles
Distal Weakness Occurs Later
Proximal Weakness Occurs First
Atrophy and Weakness of Limb Musculature
Mutation in the Mitochondrial Complex I Subunit ND4 Gene
Mitochondrial Complex I Activity Decreased
Onset Usually at Birth but May Occur Later