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22701 to 22800 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Mild Spasticity
Hypoesthesia Over Affected Areas
Mutation in the Tumor Protein p63 Gene
Eccentric Pupil
Mutation in the CRYBA2 Gene
Absence of Interphalangeal Creases
Muscle Mass Decreased
Chiari I Malformation of the Cerebellum
Prevalent in Newfoundland
Onset at Age 10-20 Years
Pes Cavus Muscle : Leg Muscle Stiffness
Vibration Sense in the Lower Limbs Decreased
Mutation in the BMS1 Gene
Grooved Enamel
Teeth May Undergo Post-Eruptive Changes
Pain Mostly in Trunk, Extremities, Pelvic Region, Buttocks
Female to Male Ratio 5:1
Mature Adipocytes
Well-Circumscribed and Painful Subcutaneous Lipomas
Painful Adipose Tissue
Inflammatory Infiltrate
Prominent Thickening of Nail Beds
Exaggerated Lordosis
Defective Response of B and T Cells to Activation
Onset of Disease around 10 Years of Age
Peripheral Vision Decreased - Childhood Onset
Ventilation May Be Required
Onset Usually in the Neck
Mutation in the GDF1 Gene
Multiple Congenital Contractures - Predominantly Knees and Ankles
Infertility due to Asthenozoospermia
Brain Iron Accumulation in the Basal Ganglia
Platelets Have Increased Expression of CD34
Anterior Commissure Not Evident
Subclinical Axonal Neuropathy
Hair Loss Begins in First Years of Life
Hirsutism of Buttocks and Thighs
Recurrent Acute Secretory Diarrhea
Urinary Hypoxanthine Increased
Constricted Glottic and Subglottic Airway
Sparing of Optic Tracts
Increased Density of the Upper Eyelashes
Uveal Coloboma
Coagulation Defects
Perinatal Generalized Edema
Jugular Bulb Dehiscence
Hexokinase Activity in Red Blood Cells Decreased
Abnormal Sweating due to Autonomic Dysfunction
Mutation in the Pseudouridine Synthase 1 Gene
Tracheomalacia - Tracheostomy May Be Required
Nonspecific Myopathic Changes
Jaw Lesions Show Fibroblasts in Fibrous Stromal Tissue
Caused by Mutation in the OPA3 Gene (606580-0002)
Caused by Mutation in the Tubulin Beta-4A Gene
Corneal and Retinal Calcification
Asparagine Levels Decreased
Poor Language
Variable Nonspecific Dysmorphic Features
Insulin Low or Undetectable
Corneal Thickness Increased
Extraocular Movements Decreased
Chronic Immune-Mediated Polyneuropathy
Stretched Cerebellar Peduncles
Severe Spasticity Affecting Lower Limbs
Sensorineural Low-Frequency Hearing Loss
Trabecular Bladder
Mild Granular Retinal Pigmentation
Alpha Synuclein Containing Inclusions
Caused by Mutation in the STAM-Binding Protein Gene
Minimal to Absent Speech
Cardiomyopathy May Develop Later in the Disease
Muscle Weakness - Mainly Proximal and Axial
Episodic Throat Swelling
Arthralgias - Knees and Shoulders
Dilated Renal Pelvis
Hyperlaxity
Muscle Tone at Birth Increased
Pulmonary Artery Hypoplasia
Cholesta-8,14-dien-3-beta-ol in Cultured Fibroblasts Increased
Papillary Epidermal Downgrowth
Progressive Corneal Clouding
Respiratory Insufficiency in Neonatal Period
Language Delay
N-Glycan Analysis Normal
Short Arms, Especially in the Proximal part
Facial Angiofibroma (Adenoma Sebaceum)
Flat Femurs with Short Metaphyses
Some More Severely Affected Patients May Die in Infancy
Static or Slowly Progressive
Caused by Mutation in the Kelch-Like Protein 41 Gene
Distal Contractures
Fetal Akinesia Sequence
Breech Presentation
Muscle Biopsy Shows Sarcoplasmic Rods in Myofibers
Onset of Symptoms within the First 2 Decades of Life
Mutation in the Solute Carrier Family 7 Member 14 Gene
Thinning of Outer Retinal Layer on Optical Coherence Tomography
Mutation in the HFM1 Gene
Small Ovaries with Few Antral Follicles (Ultrasound)
Mutation in the STAG3 Gene