29101 to 29200 most common queries

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

• Intraepithelial Nerve Fiber Density Decreased
• 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)