46801 to 46900 most common queries

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

• Speech Difficulties due to Hypoglossia
• Aminoadipic Semialdehyde Synthase Deficiency
• Genetic Heterogeneity (see LQT1)
• Subperiosteal Erosions due to Secondary Hyperparathyroidism
• Protruberant Abdomen
• Long Phalanges
• Keratosis
• Postnatal Bilateral Dense Nuclear Cataract
• Genetic Heterogeneity See Also PFIC2 PFIC3
• Severe Camptodactyly
• Mutation in the CDSN Gene
• Lysine-Ketoglutarate Reductase Deficiency
• Allelic to Noonan Syndrome
• Approximately 60% of Patients Have Anti-GAD65 Antibodies
• All Reported Cases Have Occurred De Novo
• Onset of Seizures in First Months of Life
• Serotonin Increased
• Externally Rotated and Abducted Legs
• Dental Caries by Age 2 Years
• Rapidly Progressive Brain Stem Degeneration
• Mutation in the LRP4 Gene
• Mutation in the Ankyrin 2 Gene
• Amylase Increased
• Caused by Mutation in the Klotho Gene
• IgE Levels Elevated
• Serum, Cerebrospinal Fluid, and Urine Saccharopine Increased
• Extrahepatic Bile Duct Atresia
• Mutation in the Lamin A-C Gene
• Attached Ear Lobules
• No Hypertension
• Long Hair
• Metastatic Carcinoid Tumor
• Heightened Sensitivity to External Stimuli
• Patients Often Become Wheelchair-Bound
• Rhinitis
• Death in Childhood May Occur
• Mutation in the PMM2 Gene
• Absent Delayed Hypersensitivity Skin Test
• Café Au Lait Spots on Trunk and Extremities
• Subtype 3C Comprises Cardiovascular Calcifications
• Plasma and Urine Ornithine Decreased
• Sclerotic Pelvic Bones
• No Lipodystrophy in Face and Neck
• Hypomyelination of Sural Nerve
• Small Prominent Chin
• Ulnar Deviation of the Metacarpophalangeal Joints
• Dilated Ureter
• Allelic Disorder to Benign Hereditary Chorea Which Is Less Severe
• Lumbar Paraspinal Rigidity Causes Exaggerated Lumbar Lordosis
• Knee Lump
• Moniliformis Moniliformis
• Restlessness at Birth
• Abnormal Glycoproteins
• Numbers of Natural Killer Cells Markedly Reduced
• Possibly Allelic to Cohen Syndrome
• Subtype 3A Comprises Myoclonus and Dementia
• Tomaculae (Paranodal Myelin Swellings)
• Death in the Mid Twenties
• Mild Intellectual Disability in a Second Family
• Enlarged, Sclerotic Mandible
• Some Patients Do Not Achieve Ability to Walk
• Cerebrospinal Fluid, Serum and Urinary Lysine Increased
• 'Compensated Hypothyroidism' with Increased TSH and Normal T4
• Symmetric Ventriculomegaly
• Inattentive Behavior
• Most Patients Are Wheelchair Bound
• Mutation in the SOX10 Gene
• Ulcerations in Cystoscopy
• Alopecia at the Occipital Defect
• Often Asymmetric Limb Muscle Stiffness
• Intrinsic B Cell Defect
• Onset Usually in Childhood
• Onset 5 to 7 Years
• One Family with 2 Patients Has Been Reported
• One Family Had Normal Cognitive and Neurologic Development
• Facial Asymmetry due to Facial Nerve Palsy
• Haploinsufficiency of RPS14
• Renal or Metabolic Acidosis
• Caused by Mutation in the Endothelin-3 Gene
• Responsive to Oral Mannose Therapy
• Hypertrophy of the Interventricular Septum
• Excessive Daytime Sleepiness
• Proximal Limb Muscle Stiffness
• Irregular White Dots at the Vitreoretinal Interface
• Vulvar Rash
• Stereotypic Behaviors (Hand-Washing Movements, Head Banging)
• Increased Proportion of CD19+ B Cells
• Onset at Age 2-8 Months
• Vertical Ocular Movements Usually Preserved
• Pericardial Agenesis
• Mutation in the TMEM142A Gene
• Responsive to Cobalamin
• A Subset of Patients Have Neurologic Abnormalities
• Wide, Dense Ribs
• Upper Gastrointestinal Tract Endoscopy Abnormal
• Contiguous Gene Deletion Syndrome of 5q31
• Bleeding Episodes
• Caused by Mutation in the HTRA Serine Peptidase 1 Gene
• Horizontal Supranuclear Gaze Palsy (Type IIIb)
• Isochromosome Often Missing in Lymphocyte