31301 to 31400 most common queries

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

• Deep Broad Nasal Bridge
• Retinal Pigmentation with Dispersion Decreased
• Yellowish Dots in Ocular Fundi
• Birth Weight 1.5-2 SD below Mean
• Birth Length 1.5-2 SD below Mean
• Adult Female Height 126-151 cm
• Adult Male Height: 136-161 cm
• Prenatal-Onset Short Stature
• Age of Onset Usually at Age 1 Week to 2 Years
• Age of Onset: Birth to 15 Months
• Biotin Normal
• Organic Aciduria
• Electroretinogram Decreased or Absent
• High Visual Evoked Potentials to Flash
• Exon 7 of SMN1 Is Absent in 95.6% of SMA1 Patients
• Age at Onset: Birth to 6 Months
• Initially Normal Motor Conduction Studies
• Facial Muscles Spared
• Affected Children Are Unable to Sit without Support
• Individuals Develop Ability to Stand and Walk
• Presentation at Age >18 Months
• Child often Sits Unsupported but Never Ambulates
• Death due to Respiratory Infection or Failure
• Death between 2 Years of Age and Young Adulthood
• Presentation between 6 - 18 Months
• Gradual Progression
• Wheelchair-Bound at Age 20-30 Years
• Rarely Calf Pseudohypertrophy
• Mean Age of Onset 30 Years
• Neuropsychologic Impairment
• Bleeding Time Mildly Prolonged (10-12 Minutes)
• Median Mean Platelet Volume 18fl
• No Cataracts
• No Deafness
• No Nephritis
• Clinical Overlap with Dejerine-Sottas Syndrome
• Mutation in the Myelin Protein Zero Gene
• Mutation in the EGR2 Gene
• Severe Hypomyelination (Nerve Biopsy)
• Rarely Onion-Bulb Formations (Nerve Biopsy)
• Mutation in the Activation Induced Cytidine Deaminase Gene
• Defective Generation of Somatic Hypermutations
• Giant Germinal Centers in Lymph Nodes
• IgA and IgG Decreased to Absent
• Age of Onset 17 to 68 Years
• Age of Onset of Upper Limb Involvement 10 - 43 Years
• Hypomyelination on Nerve Biopsy
• Threshold for Electrical Stimulation Increased
• Square Facial Outline
• Postnatal Macrocephaly
• Nevus Flammeus (Eyelids and Nape of Neck)
• Craniosynostosis - Coronal and Metopic Suture
• Nevus Flammeus (Eyelids)
• Death Secondary to Respiratory Insufficiency
• Caused by Mutation in the Troponin T1 Gene
• Progressive Proximal Contractures (Shoulders and Hips at Birth)
• Myofiber Degeneration (Muscle Biopsy)
• Muscle Biopsy Shows Myofibrillar Disruption
• Type I Muscle Fiber Predominance
• Muscle Biopsy Shows Nemaline Bodies on Gomori Trichrome Staining
• Tremors Subside Over the First 2 to 3 Months of Life
• Severe Pectus Carinatum
• Mean Age of Onset 31 Years
• Mutation in the Protein Kinase C Gamma Polypeptide Gene
• Saccadic Intrusions
• Focal Dystonia
• See Also PGL1
• Cells of Origin Pertain to the Diffuse Neuroendocrine System
• Mutations in the SDHC Gene
• Hoarse Voice Caused by Tumor Impingement
• Vocal Cord Paralysis due to Tumor Impingement
• Rarely Malignant
• Diaphoresis (with Pheochromocytoma)
• Pulsatile Tinnitus (Tympanic Paraganglioma)
• Cranial Nerve Palsies Can Arise with Head and Neck Paragangliomas
• Headache with Pheochromocytoma
• Delayed Acquisition of Motor Skills
• Progressive Retinitis Pigmentosa
• Moderate to Severe Congenital Sensorineural Hearing Loss
• Early Age of Onset
• Immunoreactive Neuronal Alpha Synuclein and Glial Inclusions
• Diffuse Lewy Body Pathology
• Mutation in the Lamin AC Gene
• Kyphoscoliosis May Be Present
• Age at Onset: 28-42 Years
• Mutation in the DSPP Gene
• Progressive High Frequency Hearing Loss
• Asymmetric Cranial Vault
• Proboscis-Like Nares
• Punctate, Yellow-White Sub-RPE Lesions and Subnormal Focal ERG
• Retinopathy May Resemble Retinitis Pigmentosa
• Punctate Yellow-White Sub-Retinal Pigment Epithelium Lesions
• Night Blindness Beginning in the 6th Decade
• Onset at Age 6-10 Years
• Pyramidal Tract Involvement
• Brisk Knee Reflex (Early-On)
• Extensor Plantar Responses (Early On)
• Seizures Easily Controlled by Medications
• Dyskinesia in Homozygotes Reported in One Case
• Average Onset 6 Months