34301 to 34400 most common queries

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

• Wide Intrafamiliar Range of Severity
• Mutation in the HCN4 Gene
• Variable Endocrine Abnormalities
• A Subset of Patients Develop Pulmonary Arterial Hypertension
• Triglycerides Normal
• Severe Mental Retardation in Some Patients
• Carnitine Decreased
• Neurogenic Muscle Atrophy Especially in the Lower Limbs
• Hereditary Fructose Intolerance
• Hypoplastic Femora
• Vibration or Position Sense Decreased
• Lipoatrophic Appearance
• Type 1 Fiber Predominance Seen on Muscle Biopsy
• Plasma Phospholipids Increased
• Rapid Regression
• Mutation in the Retinol Binding Protein 3 Gene
• External Ophthalmoplegia
• Arterial Tortuosity (Large and Medium-Sized Arteries, Including Aorta)
• Normal Sweat Test
• Some Patients Are Clinically Unaffected
• 3-Methylcitric Acid Elevated
• Mutation in the Kinesin Family Member 21A Gene
• Circumscribed Clumps of Keratin Filaments
• Frontal Sinusitis
• Telangiectasis in Stomach, Duodenum, Small Bowel and Colon
• Increased Variability of Fiber Size Seen on Muscle Biopsy
• Mild to Moderate Cognitive Impairment
• Gain-of-Function Mutation in the NPR2 Gene
• Fibular Agenesis or Hypoplasia
• Plasma Free Cholesterol Increased
• Childhood or Young-Adult Onset
• Bruisability Not Increased
• Development after 8-15 Months Delayed
• Cone Implicit Times Consistent with Progressive Disease
• Mutation in the 5 Oxoprolinase Gene
• Iron Normal
• Unsteady Standing
• Superficial and Deep Perivascular Infiltrates in the Dermis
• Inability to Raise Eyes above Midline
• Associated with Deletion at 2q37
• Echocardiogram and Ophthalmologic Examination Normal
• Fracture
• At Birth There Is Generalized Red Scaly Skin
• Plasma HDL Decreased
• Some Patients Do Not Have Thin Corpus Callosum
• Urine Oligosaccharides Abnormal
• Normal Early Development up to 8 to 15 Months of Age
• Tritan Color Vision Deficits
• Bowel Necrosis due to Thrombosis
• Mutation in the STIM1 Gene
• Urinary 5-Oxo-L-Proline Elevated
• Phenotypic Variability due to Oligogenic Inheritance
• Epidermal Spongiosis
• Bilateral Infraducted Eye Position - Downward Gaze
• Alpha-Subunit of Gs Normal
• Large, Broad Feet
• ApoA-I and ApoA-II Decreased
• Nasal Disorder
• Variable Penetrance of These Features
• Glucosidase I Deficiency in Liver and Fibroblasts
• Adult-Onset Decrease of Visual Acuity
• Mutation in the Natriuretic Peptide Receptor 2 Gene
• Bone-Spicule Pigment Clumping
• Right Ventricular Hypertrophy (Reported in 2 Sibs)
• Nasal Tip Enlarged
• Calcium Oxalate/Carbonate Urolithiasis
• Fatty Infiltration Seen on Muscle Biopsy
• Susceptibility due to Mutation in the SEMA3A Gene
• Majority of Affected Individuals Are Female - 85%
• Mitochondrial Paracrystalline Inclusion Bodies
• Migratory Erythematous, Hyperkeratotic Plaques
• Plasma Esterified Cholesterol Decreased
• Two Sibs Have Been Reported
• Structural Cardiac Defects
• Bone-Specific Alkaline Phosphatase Increased
• Vestibular Malformation Seen on Temporal Bone CT
• Trident Abnormality
• Adult Onset Retinal Degeneration
• Metatarsal Fracture
• Circulating Phosphate Low
• Internal Nuclei Seen on Muscle Biopsy
• Hypoplastic or Absent Fifth Finger and Toenails
• Hypophonic Breathy Voice
• Neonatal Blisters and Erosions
• Allelic Disorder to Schindler Disease
• Electron Microscopy Shows Iron-Loaded Mitochondria
• Deafness Congenital Sensorineural Severe to Profound
• Death in First Weeks of Life
• Severe Bleeding after Biopsies
• Death Often in Early Infancy
• Loss of Large Myelinated Fibers (Sural Nerve Biopsy)
• Facial Fracture
• Urine Cross-Linked N-Telopetide of Type 1 Collagen Increased
• Some Patients Survive Infancy
• Adult-Onset Pigmented Macular Degeneration
• Short Arm
• Allelic Disorder to Niemann Pick Disease Type A
• Hypoplastic to Absent Terminal Phalanges (Especially 5th Toe)
• Mutation in the Alpha-N-Acetylgalactosaminidase Gene
• Mutation in the MYH8 Gene