48201 to 48300 most common queries

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

• Short Tapered Phalanges
• Pulmonary Hypoplasia Secondary to Oligohydramnios
• Life Threatening in Infancy due to Sepsis
• Progesterone Increased
• Ulnar Hypoplasia or Aplasia
• Mild to Moderate Learning Difficulties
• Factor IX Decreased
• Absence of Mandibular Condyles
• Chronic Axonal Neuropathy (Sural Nerve Biopsy)
• Fleshy Lips
• Prominent Involvement of the Quadriceps Femoris Muscles
• Normal Isoelectric Focusing of Apolipoprotein CIII
• Hepatic Venous Thrombosis
• Mutation in the Solute Carrier Family 25 Member 20 Gene
• Four Patients Have Been Reported from Pakistan as of March 2011
• Gyral Pattern Effaced
• Long, Narrow Face
• Underdeveloped Membranous Cranial Bones
• Pronation Limited
• Incomplete Bladder Emptying
• Recurrent Severe and Invasive Bacterial Infections
• Activated Partial Thromboplastin Time Prolonged
• Hypothyroidism (20% of Adults)
• Onset Birth to Early Infancy
• 'Dragonfly-Like' Pattern
• Ossification of Sutures Delayed
• Possibly Scoliosis
• Fatal before Age 2 Years
• Onset of Thrombosis by Age 2 Years
• White Matter Decreased
• Free Carnitine Low
• Childhood or Adolescent Onset
• Renal Arterial Walls Thickening
• Carrier Frequency in Finland is 1 : 230
• Mutation in the Interleukin 36 Receptor Antagonist Gene
• Lack of Lumbar Lordosis
• Cystoscopy Abnormal
• Mutation in the Chromosome 5 Open Reading Frame 42 Gene
• Skeletal Muscle Damage
• Persistence of Neonatal Teeth
• Fat Pads Become Less Prominent with Time
• Mutation in the Phosphatidylinositol Glycan Class M Gene
• White Matter Abnormalities on MRI
• Warm Joint
• Mutation in the Seryl-tRNA Synthetase 2 Gene
• Accessory Thyroid Tissue
• Hyperkeratosis with Increased Melanin in Epidermis
• Severe Epilepsy May Lead to Early Death
• Caused by Mutation in the Senataxin Gene
• Primitive Renal Tubules May Exist
• Generalized Epiphyseal Ossification Delay
• Cholangitis
• Hyphae and Pseudohyphae in Cytoplasm of Multinucleated Giant Cells
• No Bone Marrow Abnormalities
• Enlarged Mitochondria with Paracrystalline Inclusions
• Tremor Increased by Stress
• Deep Grooves on Soles with Pillowing in between
• Hypoplasia of Fifth Toes
• Genetic Heterogeneity See SCA1
• Spinal Cord Syndrome
• Decreased Number of Sternal Ossification Centers
• Onset at Age 6 to 18 Months
• Thin Fine Hair Described in Few Individuals
• Prenatal Onset
• Pes Cavus Reported
• Absence of Differentiated Proximal Tubules
• No Skeletal Abnormalities in Odontohypophosphatasia
• Incomplete, Age-Associated Penetrance
• Bilateral Cutaneous Syndactyly of 2nd-4th Toes
• Hyphae and Pseudohyphae Within Granulomas
• No Hemolysis
• Erythrocyte Sedimentation Rate Abnormal
• Most Patients Remain Ambulatory
• Clonus
• Similar to Infantile Neuroaxonal Dystrophy (INAD)
• High Fractional Excretion of Magnesium
• Fat Pads Anterior to Calcaneus
• Normal Ability to Tolerate Heat
• No Bulbar Involvement
• Uncontrolled Rage
• Metatarsal Stress Fracture (Hypophosphatasia Only)
• Mutation in the Prosaposin Gene
• Normal Development between Episodes
• Mean Age of Onset 50 to 52 Years
• Bilateral Cutaneous Syndactyly of 3rd and 4th Fingers
• Variable Pattern of Body Involvement
• Bladder Spasm
• Epithelioid Cell Infiltration of Dermis
• Mutations in the MSX1 Gene
• Dysgeusia
• Low Fractional Excretion of Uric Acid
• Classic, Atypical, and Intermediate Phenotypes
• Attacks Triggered by Catabolic Stress Such as Fever or Illness
• Corticospinal Tracts with Decreased Myelin Staining
• Progressive Scoliosis
• Inborn Error of the Pyrimidine Degradation Pathway
• Calcium Pyrophosphate Arthropathy (Hypophosphatasia Only)
• Stroke-Like Lesions
• Deficiency of Saposins A, B, C and D
• Mutation in the Mannosidase Alpha Class 1B Member 1 Gene