48101 to 48200 most common queries

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

• Migraine Headaches, Ipsilateral to Facial Hemangioma
• Mutation in the Nephrocystin 4 Gene
• Temperature Regulation Impaired
• Absent Kidneys
• Circumferential Penile Groove
• Immune Defect due to a T Cell Deficit
• Deficiency or Absence of p47-phox Protein
• LDL/HDL Ratio Increased
• Dystonic Writer's Cramp
• Abundant and Curly Eyelashes
• Severe Pain
• Distal Leg Muscle Atrophy
• Mutation in the CHKB Gene
• Prominent Chorea
• Homozygous 122 kb Deletion 11p15-p14
• Pachygyria Bilateral Frontotemporal
• Some Females Are Affected
• Hypoplastic or Absent Optic Chiasm
• Neurofibrillary MAPT-Positive Tangles
• Cone-Shaped Epiphyses - Proximal and Middle Phalanges
• Central Islands of Vision Only
• Deficiency or Absence of p67-phox Protein Type 2
• Abundant Thick, Curly Scalp Hair
• Postural Hand Tremor
• Dry Skin
• Hearing Deficits (28% of Adults)
• Small Bowel Mass
• Dilated Cardiomyopathy (in about 50%)
• Spontaneous Pain
• Hypothalamic and-or Pituitary Defect
• Generalized Aminoaciduria
• Auditory Impairment
• Macula Clear in Early Stages
• Sclerosing Glomerulonephropathy
• Skin Wrinkling Improves with Age
• Mild Facial Weakness
• Presence of Cytochrome B-245
• Night Vision Impaired
• Progressive Growth Retardation
• Prominent Veins
• Sore Throat
• Abnormality of the Middle Ear
• Mitochondria Are Placed at the Periphery of Muscle Fibers
• Tooth Discoloration
• Often Death in Utero or Perinatal Period
• Secondary Sexual Characteristics Lacking
• Age of Onset 30 to 60 Years
• Caused by Mutation in the Fumarylacetoacetase Gene
• Mutation in the ATP6V0A2 Gene
• Range of Onset 11 to 50 Years
• Blood Vessels in Periphery Attenuated
• One German Family Has Been Reported
• All Cases Have Been Sporadic
• Visual Acuity Ranges from 20/20 to Light Perception Only
• Partial Cutaneous Syndactyly
• Brachymetatarsals
• Mutation in the AGTR1 Gene
• Burning Pain
• Cholelithiasis (19% of Adults)
• MRI Shows Increased Connective Tissue and Fat
• Recurrent Lower Respiratory Infections
• Mutation in the RAB3GAP2 Gene
• High Frequencies Affected before Low Frequencies
• Drug-induced Orthostatic Hypotension
• Inability to Suppress Vestibuloocular Reflex
• Night Blindness Followed by Complete Blindness
• Hypotrichosis (Especially Scalp, Eyebrows, Eyelashes)
• Some Patients Never Achieve Independent Ambulation
• Mutation in the CUL7 Gene
• Hyperextensibility of the Interphalangeal Joints
• Desmosterol Increased
• Brachymetacarpals
• Mutation in the Angiotensinogen Gene
• Ankylosis
• Skeletal Muscle Biopsy Shows Dystrophic Changes
• Short Stature (20% of Adults)
• Response to Acetazolamide
• Dysmorphic Facial Features May not be Present
• Postlingual Onset in Second to Third Decades
• Allelic with Cone Rod Dystrophy Type 10
• Frayed, Broken, and Shortened Elastic Fibers
• Thin Light Hair
• Hypoketotic Hypoglycemia under Fasting Conditions
• Mild Bone Deformities
• Short, Tapered Metacarpals
• Metallurgist
• Severe Streptococcus Pneumoniae Infections in Most Patients
• Neonatal Respiratory Failure due to Pulmonary Hypoplasia
• Hypoplastic Nasal Bridge
• Spontaneous Hemorrhage
• Schizophrenia (22% of Adults)
• Mutation in the HSPB1 Gene
• Caused by Mutation in the Semaphorin 4A Gene
• Mutation in the 24-Dehydrocholesterol Reductase Gene
• Generalized Skin Wrinkling
• Thin Gracile Metacarpals
• Prominent Involvement of the Biceps Brachii Muscles
• Five Patients Have Been Reported
• Repeated Bone Fractures
• Later Onset with a Milder Phenotype May Also Occur