33501 to 33600 most common queries

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

• Sensorineural Hearing Loss May Be Presenting Feature
• Upper Limb Involvement Occurs Later
• Caused by Mutations in the Myelin Protein Zero Gene
• Slow Pupillary Reaction with Slow Light Convergence Reflex
• Secondary Demyelination Occurs Later in Disease
• Motor Nerve Conduction Velocities Normal to Mildly Decreased
• Seizures Are Easily Controlled by Medications
• Normal Interictal EEG
• Seizures Often Begin with Head and Eye Deviation
• Seizures Occur in Clusters
• Possibly Secondary Generalization
• Mutation in the Indian Hedgehog Protein Gene
• Cone Shaped Epiphyses (ankles)
• Short Hands
• Short Middle and Distal Phalanges
• Enlargement of the Distal Femoral Epiphysis
• Varus Deformity (Humeral Head)
• Cone Shaped Epiphyses - Proximal and Distal Tibia
• Short Flared Iliac Wings
• Allelic Disorder to Rippling Muscle Disease
• Mutations in the Caveolin 3 Gene
• Muscle Biopsy Shows Decreased Caveolin-3 Expression
• Possibly 'Visual Variant'
• Onset in Late Twenties to Thirties
• Cortical and Subcortical Regions Involved
• Mutation in the SRY-Box 18 Gene
• Normal Scalp Hair at Birth Then Progressive Hair Loss
• Lower Limb Lymphedema
• Congenital Eyelid Edema
• Eyelashes Absent
• Allelic Disorder to CMT4A
• Upper Limb Involvement in First Decade
• Onset in Feet and Legs
• Onset before Age 3 Years
• Loss of Myelinated Fibers on Nerve Biopsy
• Partial Laminin Alpha-2 Deficiency Results in Milder Phenotype
• Ambulation Usually Not Achieved
• Increased Endomysial Connective Tissue around Muscle Fibers
• Absence of Laminin Alpha 2 Chain in Muscle
• Absence of Merosin in Muscle
• Most Common Terminal Deletion Syndrome
• Deletion of 1p36
• Anticonvulsants Are Effective
• Movement or Postural Maintenance Elicit Tremor
• Non-Progressive
• Recurrent Respiratory Tract Infections
• Normal Hair Shaft Morphology
• Hypopigmented Skin Patches on Arms (Vitiligo)
• Hyperpigmented Skin Patch
• IgG Normal to Increased
• Specific Antibodies Decreased
• T Cell Response to Mitogens Decreased
• Combined Humoral and Cellular Immunodeficiency
• Considered to Be a Severe Form of Gaucher Disease Type 2
• Most Severe Form of Gaucher Disease
• In the Absence of Hydrops, Death within 3 Months
• Desquamation of Skin Soon after Birth
• Collodion Skin
• Gaucher Cells in Spleen, Liver, Lymph Nodes, Bone Marrow, CNS
• Glucocerebrosidase Protein and Activity Decreased
• Spontaneous Movements at Birth Decreased
• Absent in Utero Ossification of Pedicles
• Absent Ossification of Vertebral Bodies in Utero
• Intralobular Nephrogenic Rests
• Small Cerebellum - Especially Vermis
• Congenital Absence of Distal Phalanges
• Proximal and Distal Symphalangism
• Multiple Hyperplastic Frenula
• Prominent Broad Nasal Bridge
• Cerebellar Atrophy - Especially of the Vermis
• Spasticity May Occur
• Onset of Sensory Neuropathy in Later Adulthood
• Onset of Cough in Early Adulthood
• Sensory Loss More Severe for Pain and Temperature
• Abnormal Jerky Eye Movements
• Dysgenesis or Agenesis of the Cerebellar Vermis
• No Hippocampal Sclerosis
• EEG and Symptomatology Suggest Mesial Temporal Origin
• Interictal EEG May be Normal or Abnormal
• Status Epilepticus Rarely Occurs
• Caused by Mutation in the Alpha-Sarcoglycan Gene
• Immunostaining for Alpha-Sarcoglycan Decreased
• Loss of Reflexes due to Myopathy
• Seizures and Dystonia Peak during Childhood
• Prolonged Somatosensory Evoked Potentials
• Rolandic Sharp-Waves and Spikes
• Generalized Seizures May Occur
• Partial Seizures - Often Hemifacial
• Normal B-Cell (CD19+) Count
• Impaired Ig Class Switch Recombination
• IgG and IgA Low
• Major Fluid Shifts May Occur in Severe Cases
• Ovaries Return to Normal Size after Delivery
• Enlarged Multilocular Ovaries
• Zinc Deficiency in Breastfed Offspring Resolves after Weaning
• Breastfed Offspring Have Transient Decrease of Plasma Zinc Levels
• Breast Milk Zinc Decreased
• Balanced Translocation T-12-22: p11.2 - q13.3
• Translocation Disrupting the FBLN1 Gene
• Metatarsal Synostosis (3rd and 4th Digits)