45201 to 45300 most common queries

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

• Pseudocleft
• Late-Onset Renal Amyloidosis
• Broad Hypoplastic Ischia
• MR Spectroscopy Shows Decreased N-Acetyl-Aspartate
• Wheezing
• Dorsalization of Palms
• Enlargement of the Spleen
• Mutation in the Complement Component 4A Gene
• Loss of Ambulation within 10 Years of Onset
• Lethal Micromelic Dwarfism
• Rickets in Children
• Restricted Neck Movement due to Contractures
• Non-Penetrance Has Been Observed
• One Canadian Mennonite Family Has Been Reported
• Autonomic Symptoms Occur with Headaches
• Early Onset Mixed Conductive and Sensorineural Deafness
• Episodic Headache
• Divided Nasal Tip
• Large Corneae
• Supratentorial Volume Decreased
• Genital Lesions
• Normal Lower Limbs
• Mutation in the WDR19 Gene
• Theophylline Poisoning
• Late-Onset Mild Cerebellar Ataxia
• Odor Identification Normal
• Onset of Insulin Resistance Possibly in Childhood
• Two Episodic Subtypes
• Absent 3rd, 4th and 5th Ulnar Rays
• All Reported Cases Have Occurred Sporadically
• Onset of Skin Manifestations from Birth to Puberty
• Increased Thrombopoietin May Occur
• Combined Hamartoma of the Retina and Retinal Pigment Epithelium
• Recurrent Dental Abscesses
• Normal Head Size
• Asymmetric Short and Severely Deformed Legs
• Unusual Body Odor
• Recurrent Asthma
• Xanthoma
• MRI Shows Global Lack of Myelination in the Cerebral Hemispheres
• Decreased Odor Discrimination
• Frequent Falls with Preservation of Consciousness
• Onset of Major Clinical Features in Young Adulthood
• Autosomal Recessive Inheritance Has Been Suggested
• Hypoplastic, Absent or Deformed Radius
• Cyst of Iris Pigment Epithelium
• Homozygotes Have More Severe Disease with Earlier Onset of Thrombosis
• Mutation in the Elastin Gene
• Trypanosomiasis
• Mild Scoliosis
• Thin, Long Clavicles
• Onset of Bleeding in Infancy or Early Childhood
• Defect in Dentin Maturation
• Cortical Multifocal Myoclonus
• Crawling and Standing Not Achieved
• Asthmatic Pulmonary Eosinophilia
• Thick Nails
• Odor Sensitivity Decreased
• Mutation in the PPARG Gene
• Hypoplastic, Absent or Deformed Ulna
• Orbital Dermoid Cyst
• Onset of Symptoms Usually in Adulthood
• Sparse Fragmented Elastic Fibers
• Severely Short Stature
• Hyperkeratotic Epithelium with Rete Ridges Extending into the Dermis
• Mutation in the Neurobeachin-Like Protein 2 Gene
• Stable or Slowly Progressive Course
• Chronic Pelvic Pain Syndrome
• Mutation in the CRBN Gene
• Rudimentary Tympanic Membrane
• Stratum Granulosum Increased
• Ipsilateral Forehead Sweating
• Supraauricular Sinus
• Mutation in the Coagulation Factor V Gene
• Ectopic Upper Canines
• Small Second through Fifth Toes
• Skin Elasticity Decreased
• Facial and Neck Adipose Tissue Normal or Decreased
• Broad Gums
• Mutation in the Glycerate Kinase Gene
• Phenotype Indistinguishable from Congenital CMV Infection
• No Autistic Features
• Partial Aplasia of External Auditory Canal Ending in Blind Fistula
• Large and Cup-Like Keratin Plugs
• Fetal Loss Increased
• Low to Normal Platelet Count
• Episodic Subtype - Headaches Occur in Clusters
• Postnatal Growth Deficiency (50%)
• Glomerulosclerosis
• Delayed Female Puberty
• Normal or Increased Abdominal Adipose Tissue
• Moderate Psychomotor Retardation
• Hyperglycinemia
• Premature Aged Appearance
• Short Phalanges (2nd and 5th Digits)
• Behavioral Difficulties
• Caused by Mutation in the Anthrax Toxin Receptor 2 Gene
• Risk for Preeclampsia Increased
• Lack of Ciliary Motility
• Mutation in the COL4A1 Gene