42001 to 42100 most common queries

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

• Risk of Developing Early Onset Aggressive Cancers Increased
• Short Stature (3rd-10th Percentile)
• Relative Short Stature
• Variable Degree of Villous Atrophy
• Neurologic Deterioration in Long-Term Survivors
• Paradoxical Myotonia - Myotonia Increases with Exercise
• Electroencephalogram Abnormal
• Lung Hypoplasia at Birth
• Neuronal Loss in the Dentate Nuclei
• No Osteosclerosis
• Severe Muscle Hypotonia at Birth
• B Cell Survival and Tolerance Decreased
• Variable Findings in Muscle Biopsy
• Few Patients with Mild to Moderate Mental Retardation
• Malformed Ossicular Chain
• Suppression Frontal
• Prenatal Diagnosis Available
• Small Cell Carcinoma of the Ovary - Hypercalcemic Type
• Pseudosclerosing Cholangitis
• Onset Usually at Age 12-15 Years
• Lipodystrophy
• Dyslexia and Alexia
• Severe Respiratory Muscle Weakness
• Fifth Finger Distal Interphalangeal Joint Symphalangism
• Neuronal Loss in the Purkinje Cell Layer of the Cerebellar Vermis
• Walking Independently at 2.5-4 Years of Age
• T Cell Activation Increased
• Osteosclerosis of the Scapulae
• Fiber Hypertrophy Type 2
• Near Stenosis of Bony Portion of Auditory Canal
• Caused by Mutation in the TWIST Transcription Factor Gene
• Survival to 20s - 60s in IIB
• Progressive Liver Disease
• Suppression Temporal Bilaterally
• Mutation in the WDR72 Gene
• Diffuse Entrapment Neuropathy
• Mutations in the Cystinosis Gene
• Respiratory Distress due to Muscle Weakness - Often Fatal
• Hirsutism - Especially on Limbs
• Hyperproliferation of Effector T Cells
• Mild Cognitive Decline
• Respiratory Compromise due to Small Size of Thorax
• Some Patients Only Achieve Sitting
• Severe Narrowing of Cartilagenous Auditory Canal
• Intracranial Hypertension due to Multisutural Cranial Fusion
• Death before Age 15 in Type 2A
• Suppression Occipital
• Enteric Salmonellosis
• Variable Malocclusions
• Short Trunk Dwarfism Identifiable at Birth
• Osteosclerosis of the Anterior and Posterior Ribs
• Muscle Biopsy Shows No Dystrophic Changes
• Present Rooting Reflex
• White Cell Cystine Increased
• Cutis Laxa - Hands and Feet
• T Regulatory Cells Show Poor Function
• Ossification of Pubis Delayed
• Optic Nerve Hypoplasia or Agenesis
• Onset Early in First Decade
• Possibly Myotonic Discharges (EMG)
• Mutation in the Homeobox A2 Gene
• Syndactyly - Often 3rd - 4th Toes
• Teeth Sensitive to Thermal and Physical Stimuli
• Two Forms - 2A severe and 2B mild
• Subset of Patients Have French Canadian Leigh Syndrome (220111)
• Apraxia
• Caused by Mutation in the CREB-Binding Protein Gene
• Spastic Paraplegia (Later Onset)
• Coma Beta Patterns
• Levels of Naive T Cells Decreased
• Unilateral or Bilateral Anophthalmia
• Type 1 Fibers Are at Least 12% Smaller than Type 2 Fibers
• Sclerotic Metaphyseal Changes
• Delayed Ossification of Ischium
• Myofibrillar Disorganization
• Enamel Layer Shows Reduced Radiodensity
• Onset 2-4 Years of Age in 2A
• Metabolic Decompensation Precipitated by Illness
• 1st Metatarsal Absent
• See also Autosomal Dominant Form (176860)
• Antecubital Webbing
• Abnormal Lymphocytic Accumulation in Non-Lymphoid Tissue
• Ossification of the Cervical Vertebral Bodies Delayed
• Irregular Metaphyseal Ossification
• Muscle Biopsy Shows Fiber Type Disproportion
• Mutation in the LAMB1 Gene
• Unilateral or Bilateral Microphthalmia
• Coma Delta Patterns
• Subset of Patients Have Leigh Syndrome
• Bálint's Syndrome
• Lipid Droplet Accumulation
• Rough Enamel
• Occasional Late Onset of Symptoms with Homozygosity
• Dermatan and Heparan Sulfate Excretion in Urine
• Bifid Terminal Phalanges - Digits 2 and 3
• Limited Elbow Extension with Normal Elbow Flexion
• Peripheral Lymphopenia
• Genetic Heterogeneity - See MCC2 Deficiency
• Short Deformed Tubular Bones
• Relatively Preserved Limb Strength