26901 to 27000 most common queries

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

• May be Lethal in Infancy if Untreated
• Mutation in the Protein C Gene
• Slow Progression
• Mean Age of Onset 16 to 19 Years
• Caused by Mutation in the Protein S Gene
• Some Patients Show Rapid Disease Progression
• Onset in Third to Fifth Decade of Life
• Mutation in the PI12 Gene
• Neuronal Inclusion Bodies Stain for Neuroserpin
• Collins Bodies in Neurons of the Cerebral Cortex
• Visuospatial Skills Impaired
• Most Patients Wheelchair-Bound from 2nd-4th Decade of Life
• Mutation in the SGCB Gene
• Skeletal Muscle Shows Decreased Sarcoglycan Proteins
• Skeletal Muscle Shows Dystrophic Changes
• Proximal Muscle Weakness (Limb Girdle)
• Several Forms of Autosomal Recessive Spastic Paraplegia
• Caused by Mutation in the Spatacsin Gene
• Loss of Myelinated Fibers (Nerve Biopsy)
• Peripheral Motor and Distal Sensory Neuropathy
• Severe Cognitive Deficits
• Allelic to Infantile Sialic Acid Storage Disorder
• Painful Muscle Cramps
• Loss of Peripheral Nerve Axons
• Loss of Dorsal Root Ganglion Cells
• Tetraplegia in Advanced Disease
• Mild Loss of Touch and Temperature
• Hypo or Areflexia
• Allelic to Marshall Syndrome
• Mutation in the CYLD Gene
• Multiple Trichoepitheliomas
• Multiple Cylindromas (Scalp, also Face, Trunk, Extremities)
• Normal Phalanges
• Normal Metatarsals
• Oval or Triangular-Shaped Tibia
• Proximal Widening of Ulna
• Mesomelic Limb Shortening
• Widened Sacrosciatic Notch
• Hypoplastic Acetabular Roof
• Hypoplastic Glenoid
• Corneal Diameter Normal
• Mutation in the Solute Carrier Family 39 Member 13 Gene
• Birthweight at or below 3rd Centile
• Prolyl 4-Hydroxylase Activity Normal
• Lysyl Hydroxylase Activity Normal
• Lysyl Pyridinoline/Hydroxylysyl Pyridinoline Ratio ≈ 1
• Widened Metaphyses (Metacarpus and Phalanges)
• Inability to Adduct Thumbs
• Widened Metaphyses - Elbows and Knees
• Mildly Flattened Proximal Femoral Epiphyses
• Mutation in the Heparin Cofactor II Gene
• Post-Angioplasty Coronary Artery Restenosis
• Mutation in the SLC29A3 Gene
• Bicommissural Aortic Valve
• See Also Autosomal Dominant Form of Dopa-Responsive Dystonia
• Activity of Tyrosine Hydroxylase Decreased
• Cerebrospinal Fluid 5-HIAA Normal
• Cerebrospinal Fluid 3-Methoxy-4-Hydroxyphenylglycol Decreased
• Caused by Mutation in the Homeo Box A11 Gene
• Proximal Radio-Ulnar Synostosis
• Precipitating Factors Include Viral Illness and Pregnancy
• Bile Acids Increased
• Progression to End Stage Liver Disease Does Not Occur
• Mild Fibrosis (Biopsy)
• Episodic Jaundice
• Triplication of the Alpha Synuclein Gene
• Anteriorly Positioned Anus
• Hypoplastic Perineum
• Possibly Favorable Response to Sulfonylurea
• Cystinuria Type 1
• Mitochondrial Respiratory Chain Complex Decreased
• Normal Mitochondrial Respiratory Chain Complex I-V
• Transient Neonatal Hypocalcemia (2p21del)
• Lactate Normal
• Lactic Acidemia
• Muscle Fibers Normal (HCS)
• Red Ragged Fibers (2p21del)
• Tented Upper Lip (HCS)
• Depressed Nasal Bridge - 2p21del
• Almond-Shaped Eyes (2p21del)
• Large Ears (2p21del)
• Postdates Delivery
• Fetal Movements Decreased (HCS and 2p21del)
• Severe Failure to Thrive (2p21del)
• Rapid Weight Gain in Late Childhood (HCS)
• Cystine Calculi in Bladder (2p21del)
• Hyperphagia in Late Childhood (HCS)
• Moderate to Severe Mental Retardation (2p21del)
• Severe Developmental Delay (2p21del)
• Neonatal Seizures due to 2p21del
• Hypergonadotropic Hypogonadism (HCS)
• Tenascin X Deficiency
• Some Patients May Have Isolated Myokymia
• Trinucleotide Repeat Expansion in the JPH3 Gene
• Mutation in the Procollagen-Lysine-2-Oxoglutarate-5-Dioxygenase 3 Gene
• Blistering (Fingers, Toes, Pinnae)
• Birth Weight below 0.3 Percentile
• Birth Length below 0.3 Percentile
• Glucosyltransferase Activity Decreased
• Abnormal Urinary Collagen Derived Pyridinium Crosslinks