30401 to 30500 most common queries

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

• Mutation in the Cytochrome C Oxidase Subunit X Gene
• Caused by Mutation in the Surfeit 1 Gene
• Anemia (associated with Mutation in the COX10 Gene)
• Increased Lipid Droplets and Abnormal Mitochondria
• Muscle Biopsy Shows Decrease or Absence of Cytochrome C Oxidase
• Liver Biopsy Shows Increased Lipid Droplets and Abnormal Mitochondria
• Cytochrome C Oxidase Decreased (Biopsy)
• Pyramidal Syndrome
• Death Usually by Age 2 Years
• Liver Biopsy Shows Increased Lipid Droplets
• Tall, Broad Forehead
• Mutation in the KCNE1 Gene
• Cysts in Patella and Ends of Long Bones
• Bone Cysts Filled with Necrotic Fatty Material
• Neuropathologic Examination Shows Severe Demyelination
• MRI Shows Leukoencephalopathy
• Mild Memory Loss
• Progressive Presenile Dementia (Onset at about Age 30 Years)
• Skin Nodules - Fingers Elbows Nose Ears
• Defective, Irregular Tarsal Ossification
• Limited Feet Motion
• Hand Motion Limited
• Anterior Stromal Haziness
• Corneal Dystrophy
• Recurrent Skin Ulcerations - Face Trunk Limbs
• Fistulous Osteolysis around Joints
• Arthralgia - Hands, Feet, Ankles and Knees
• Limited Mobility of Proximal Interphalangeal Joint
• Broad Tip
• Birth Weight 50-97th Percentile
• Characteristic Hoarse Voice
• Short Finger with Ulnar Deviation
• Ossified Pinnae
• Neonatal Cystic Lesions of the Pinnae
• Adult Height: 100-140 cm
• Normal Phytanic Acid
• Episodic Hypothermia In Infants
• Hypoglycemia Episodic in Infants
• Mutation in the Dopamine Beta Hydroxylase Gene
• Fainting Spells
• Severe Recurrent Orthostatic Hypotension
• Plasma DBH Activity Undetectable
• Dopamine Release upon Stimulation of Sympathetic Fibers
• Dihydroxyphenylacetic Acid Increased
• Epinephrine Undetectable in Plasma Urine CSF
• Plasma, Urine and Cerebrospinal Fluid Norepinephrine Undetectable
• Delayed Neonatal Eye Opening (up to 2 Weeks)
• Impaired Ejaculation due to Decreased Sympathetic Activity
• Seizures May Occur during Hypotensive Episodes
• Eczema - Face and Flexural Areas
• Average Birth Head Circumference 30.6 cm
• Frequent Vomiting
• Average Birth Weight 2.3 kg
• Average Birth Length 44 cm
• Allelic with Smith-McCort Dysplasia
• Mutations in the FLJ90130 Gene
• Multicentric Ossification of Proximal Humeral Epiphyses
• Wide Pubic Ramus
• Wide Sacroiliac Joint
• Irregular Lacy Iliac Crests
• C1-C2 Dislocation
• Calvarial Thickening - Parietal and Occipital Regions
• Adult Height 98-127 cm
• Flared Acromion
• Severe Psychomotor Retardation (IQ: 35-65)
• Prevalence in Persons of Ashkenazi Jewish Descent Increased
• Postural Hypotension without Compensatory Tachycardia
• Breath Holding Episodes
• Erythematous Skin Blotching
• Sensitivity to Adrenergic and Cholinergic Agents Increased
• Lingual Fungiform Papillae Decreased or Absent
• Pupillary Contraction in Response to Methacholine
• Vomiting Crises
• Poor Oral Coordination
• Few Neurons in Dorsal Root Ganglia
• Neurons in Spinal Sympathetic Ganglia Decreased
• Large Myelinated Fibers Decreased
• Decreased Small Myelinated and Unmyelinated Fibers
• Hypoplastic Sural Nerve
• Intellect Is Unimpaired
• Prominent Autonomic Manifestations
• Vibratory Loss Occurs Later
• Decreased Pain and Temperature Perception
• Postnatal Cataracts
• Red-Violet Macular Atrophy
• Sclerotic Carpals
• Short Thick Diaphyses
• Radiolucent Metaphyses
• Epimetaphyseal Sclerosis
• Pronounced Anterior Notches
• Periorbital Sclerosis
• Poorly Calcified Teeth
• Short, Thick Sternum
• Sclerotic Clavicles
• Short, Wide Ribs
• Sclerotic Ribs
• See Also Dyssegmental Dysplasia Type Silverman-Handmaker
• Lethal in 40% of Patients
• Short, Broad Tubular Bones
• Dumbbell Femurs