36301 to 36400 most common queries

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

• Odoriferous Hypertrophic Plaques
• Multiple Spider Angiomata
• Well Demarcated Atrophy of Choriocapillaris
• Central Cores Seen on Muscle Biopsy
• Onset before Age 3 Years
• Mean Age at Onset 46.5 Years
• Mutation in the MMAB Gene
• Focal Partial Motor Seizures
• Somatic Mutations Occur in Adrenal Tumor Tissue
• One Family Reported (as of June 2009)
• Elbow Knee Shoulder Contractures
• Aplasia or Hypoplasia of the Radius
• Onset in Adolescence or Young Adulthood
• Mutations in the Synaptosomal Associated Protein 29 kD Gene
• Increased Mobility of Facial Skin
• Well-Demarcated Atrophy of Pigment Epithelium
• Onset in Mid-Adulthood
• Loss of Myelinated Fibers on Nerve Biopsy
• Recurrent Parotid Gland Swelling
• Brain Imaging Shows Calcification of the Dentate Nucleus
• Muscle Weakness (Distal > Proximal)
• Short Proximal Phalanges of Thumbs
• Birth Rate of 7.6 per 1 000 000
• Anterior Bowing of Long Bones
• Bilateral Adrenal Adenomas
• Short Arms, Especially in the Proximal part
• Virus
• Exacerbation at Puberty
• Caused by Mutation in the Anoctamin 10 Gene
• Abnormal Distribution of Glucosylceramides
• Seizures May Improve with Age
• Well-Demarcated Atrophy of Central Retina
• Secondary Myopathic Changes
• Partial Laminin Alpha-2 Deficiency Results in Milder Phenotype
• See Also Optic Atrophy Type 1 - an Allelic Disorder without Deafness
• Mutation in the NBAS Gene
• Mutation in the MCPH1 Gene
• Centrally Located Nuclei Seen on Muscle Biopsy
• All Reported Mutations Have Occurred De Novo
• Slender Diaphysis
• Turtle-Backed Nails
• Flat Femurs with Short Metaphyses
• Throat Irritation
• Deficient Fibroblast AICAR-TF Activity
• Mild Atrophy of the Proximal Lower Limbs
• Seizures Are Usually Refractory at First
• Progressive Loss of Central Vision
• Abnormal Lamellar Granule Maturation
• Possibly Ophthalmoplegia in Middle-Aged Patients
• Biopsy Shows Signs of Denervation
• Ambulation Usually Not Achieved
• Disproportionately Small Cerebral Cortex
• High Voice with Harsh Timbre
• Thickened, Furrowed Skin
• Myotonia Seen on EMG
• Four Unrelated Patients Have Been Reported - Last Curated June 2014
• Some More Severely Affected Patients May Die in Infancy
• Long Eyelashes In Irregular Rows
• Some Patients Show Delayed Development from Birth
• Acute Cough
• Cerebellar Atrophy Severe
• Erythrocyte AICAR Elevated
• Duplicated Appendix and Distal Colon
• MRI Shows Defects of the Corpus Callosum
• Brain Weight Decreased
• Mutation in the OPA1 Gene
• Increased Endomysial Connective Tissue around Muscle Fibers
• Mild Muscle Atrophy
• Hypolobulation of Granulocyte Nuclei
• Urine Prostaglandin E2 Increased
• Mutation in the Connexin 26 Gene
• Absent or Poor Expressive Speech
• Static or Slowly Progressive
• Mutation in the ROGDI Gene
• Mental Retardation (25%)
• Six Genetically Confirmed Patients Have Been Reported
• Urine and Cerebrospinal Fluid 5-Amino-4-Imidazolecarboxyamide Elevated
• Lower Respiratory Tract Infection
• Radioresistant DNA Synthesis
• Absent or Decreased Auditory Brainstem Responses
• Respiratory Distress at Birth
• Wide Hallux
• Rapid Progression in Adolescence
• Major Developmental Milestones Are Not Attained
• Expanded Metaphyses
• One Pakistani Family Reported
• Absence of Laminin Alpha 2 Chain in Muscle
• Caused by Mutation in the Kelch-Like Protein 41 Gene
• Very Poor Expressive Speech
• Multifocal Epileptiform Discharges
• Small Toenails
• Bladder Exstrophy
• Leukocytes Decreased
• Premature Death
• High Arch
• Intrafamilial Variability
• Eyelashes Sparse or Absent
• Absence of Merosin in Muscle
• Asymptomatic Heterozygotes Susceptible to Lead Toxicity
• Diaphyses Expanded