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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)