47701 to 47800 most common queries

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

• High Electrolyte Content of Sweat
• Mild to Moderate Growth Deficiency
• Defective Antibody Response
• Dwarfism Not Detectable at Birth
• Toe Swelling
• Joint Laxity (Fingers and Wrist)
• Mean Age at Diagnosis: 40 Years
• Marked Shortness and Bowing of Long Bones
• Unilateral Hypertropia
• Broad Upturned Nasal Tip
• Most Patients Require Ambulatory Aids about 10 Years after Onset
• Patients May Show Normal Development
• Vomiting (HCP)
• Congenital Diaphragmatic Hernia
• Color Vision Defects Not in All Cases
• Long Birth Length
• Mental Retardation but Majority of Patients Are Normal
• Caused by Mutation in the Synaptotagmin 14 Gene
• Pectus Carinatum Present in Obligate Carrier Mothers
• Diarrhea Secretory Severe
• Cloverleaf Skull - Rarely
• Unilateral Hypotropia
• Secondary Decreased Activity of Argininosuccinate Synthetase
• Respiratory Insufficiency
• Allelic Disorder to Adult Polyglucosan Body Disease
• Mutation in the ACY1 Gene
• Adult Onset - 40s
• See Also Pachyonychia Congenita Type 3
• Splenomegaly - Harderoporphyria
• Retinal Pigment Abnormalities
• Marine Animal Bite Or Sting
• Death within First Year of Life (20%)
• Ambulation Is Usually Maintained during Adulthood
• Hepatocyte Iron Increased
• Eyes Fixed in Extreme Abduction (Exotropia, Strabismus Fixus)
• Enlargement of the Liver
• Severe Growth Deficiency in Survivors
• Pancreatic Secretory Trypsin Inhibitor Increased
• Caused by Mutation in the Histone Deacetylase 6 Gene
• Electroretinographic Flicker Reduced
• Caused by Mutation in the Transglutaminase 6 Gene
• Hard, Thickened Nails (Pachyonychia)
• Cone-Shaped Epiphyses of Distal Radii
• Nonprogressive Hepatic Form Is Less Frequent
• Urine N-Acetylated Amino Acids Increased
• Paranoia (HCP)
• Mutation in the NOLA3 Gene
• Twenty-Five Percent of Affected Babies Are Stillborn
• Prolonged Neuromuscular Block
• One Family Has Been Reported as of September 2011
• Onset Usually at Age >40
• Profound Mental Retardation and Hypotonia in Survivors
• Chitotriosidase Increased
• Refractive Error - Usually Combined Hyperopic Astigmatism
• Incomplete Penetrance in Females
• Hallucinations (HCP)
• Extreme Clinical Heterogeneity
• Saccadic Slowing
• Aminoacylase-1 Activity Decreased
• Recurrent Shedding of Nails
• Underossified Epiphyses
• Sudden Onset of Neuropsychiatric Symptoms
• Fishing
• Dense Vertebral Bodies
• Mutation in the Cytoplasmic Dynein 1, Heavy Chain 1 Gene
• Mutation in the DNA Helicase RECQ-Like Type 4 Gene
• Temporal Lobe Heterotopias
• Motor Symptoms Are Variable
• Stereopsis Decreased to Absent
• Deformity or Enlargement of Bones
• Tissue Deposition of Amylopectin-Like Material
• Episodic Inflammatory Swelling of Nail Bed
• Mild to Moderate Psychomotor Retardation
• Neutrophil Chemotaxis Abnormal
• Disproportionately Long Fibulae
• Marked Cachexia
• X-Linked Inheritance Could Not Be Ruled out
• Short, Bulbous Nose
• Gastrointestinal Perforation
• Abnormal Breathing Patterns
• Sural Nerve Biopsy Shows Axonal Degenerative Process
• Acute Episodes of Neuropathic Symptoms
• Death in Majority of Infants soon after Birth
• Onset in Females Ranges from Third to Seventh Decade
• Mixed Regions of Osteosclerosis and Osteolysis
• Null Point Shifts Every Few Seconds to Minutes
• Branching Enzyme Deficiency
• No Hyperhidrosis
• Onset 0-12 Hours after Birth
• Decreased Activities of Complexes I, III and IV - Variable
• Long Ulna
• Death in Infancy in Majority of Patients
• Mental Distress
• Variable Distal Sensory Impairment
• Mean Age at Onset 27 Years
• Symptoms Worsen with Fatigue and Exercise
• Body Habitus Becomes Apparent in Childhood
• Straight Femurs
• Liver Biopsy Shows Diffuse Interstitial Fibrosis
• Telangiectatic Facial Rash in Butterfly Distribution