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29101 to 29200 most common queries

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

Impaired Distal Temperature Sensation Mutation in the Collagen III Alpha 1 Polypeptide Gene One Patient Reported with COL3A1 Mutation Some Patients Report Increased Tolerance to Heat No Fingerprints due to Lack of Epidermal Ridging Clubbed Appearance Longitudinal Grooving and Splitting Transverse Grooving Numbers of Capillaries in Collagen of Dermis Increased Collagen Bundles of Dermis Coarse and Twisted Irregularity of Rete Pegs Absent or Reduced Number of Sweat Glands Blistering of Palms in Hot Weather Fissuring of Palms and/or Soles in Hot or Cold Weather Thick Calluses on Soles of Feet Rough Thick Palmar Skin Sweating of Palms and Soles Decreased Congenital Vesicles on Fingers and Soles Congenital Facial Milia Especially on Chin Lack of Epidermal Ridges on Palms and Soles Cutaneous Syndactyly of Toes Clinodactyly of Fifth Fingers Mutation in the Uridine Diphosphate Glycosyltransferase 1 Gene See Also GLUT1DS2 - an Allelic Disorder with a Less Severe Phenotype Favorable Initial Response to Levodopa Flattening of the Caudate Nucleus Some Patients Never Gain Ambulation or Become Wheelchair-Bound Ventricular Dilatation Pachygyria Nodular Heterotopia Some Patients Have Neurologic Involvement Pathogenic Alleles Contain Greater than 41 Repeats Normal Alleles Contain 6 to 28 Repeats Heterozygous Deletion of the Terminal Band 22q13.3 Including SHANK3 Wide Phenotypic Variation Tendency to Overheat Large, Fleshy Hands Mild Maxillary Prognathism Neonatal Feeding Difficulties Growth Normal to Accelerated Poor Communication Inappropriate Chewing Behavior Neonatal Hyporeflexia Increased Tolerance to Pain Severely Compromised Expressive Language Development Absent or Delayed Speech Development Worsening of Hand Weakness with Cold Neurogenic Atrophy (Muscle Biopsy) Compound Muscle Action Potentials Decreased Both Upper and Lower Limb Involvement Genetic Anticipation Associated with Progressive Telomere Shortening Variable Penetrance and Expressivity Acute Vision Loss due to Optic Nerve Infarction Mutation in the Human Homolog of the Mouse Progressive Ankylosis Gene Corneal Endothelial Dystrophy (Cornea Guttata) Natural Aversion to Carbohydrates and Favoring of Protein Resolution of Symptoms Usually at Age 6-12 Months Mutation in the SLC25A13 Gene Platonychia Lunulae Poorly Developed or Absent Free Margin Notched or Split Thinning of Nail Plate Reddish Dome-Shaped Prominence at Origin of Ridges Longitudinal Angular Ridges Death by Age 15 Months Perinatal Onset Activity of Mitochondrial Respiratory Complexes Decreased Activity of 2-Oxoacid-Dehydrogenases Decreased Glycine, Leucine, Isoleucine and Valine Increased Urine 2-Hydroxybutyrate Increased Serum and Urinary Lactate Increased Spongiform Degeneration Neurologic Regression Responsiveness Decreasing Abnormal Dark Adaptation, Midperipheral Scotoma Severe Vision Loss by the 8th Decade Tilted Optic Discs Macrophthalmia All Reported Cases Have Occurred De Novo Long Hair Ulnar Deviation of the Metacarpophalangeal Joints Mild Intellectual Disability in a Second Family Onset at Age 2-8 Months Mutation in the TBC1 Domain Family Member 24 Gene Mildly Delayed Motor and Speech Development Mutation in the Reticulon 2 Gene Mutation in the BMP2 Gene Mild Facial Anomalies Mutation in the Fibrillin 1 Gene Well-Defined Eyebrows Pseudomuscular Build Second Metacarpal Notched Proximally on Radial Side Short, Stubby Phalanges Short, Stubby Metacarpals Internal Notch of Femoral Head Mutation in the Ryanodine Receptor 2 Gene Atrioventricular Node Dysfunction Sinoatrial Node Dysfunction Caused by Mutation in the Lipase H Gene (LIPH) Comedo-Like Remnant Hair Follicles on Skin Biopsy