18601 to 18700 most common queries

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

• Lacrimal Duct Imperforation
• Deafness due to Bilateral Cochlear Malformation
• Fistula of Philtrum
• Multiple Intestinal Atresia
• Enterocyte Tufting
• Ureteral Duplication
• De Novo Mutation Identified in Some Patients
• Neonatal Lethal due to Respiratory Insufficiency
• Atelectatic Lungs
• Marked Brachydactyly
• Marked Bowing of Radius
• Mildly Bowed Femora
• Vertebral Body Ossification Mildly Delayed
• Flat Broad Nasal Base
• Small Cavum Conchae
• High, Bulging Forehead
• Enlarged and Edematous Spleen
• Enlarged and Edematous Liver
• High Clavicles
• Irregular, Widened Anterior Ends of Ribs
• Small Phallus
• Mutation in the PXDN Gene
• Anterior Segment Dysgenesis
• Iridocorneal Dysgenesis
• Partial or Total Corneal Opacification
• Mutation in the AK2 Gene
• Diffuse Reticulogranular Pattern Seen on Chest Radiograph
• Lethal in the Neonatal Period
• Caused by Mutation in the Forkhead Box F1 Gene
• Features Other than ACD-MPV Are Variably Present
• Muscularization of Arterioles Increased
• Deficient Capillarization of Airspace Walls
• Alveolar Capillary Dysplasia
• Mutation in the COLEC11 Gene
• Diabetes Mellitus Develops in Adolescence
• Death in Neonatal Period
• Persistent Bradycardia - Onset in Utero
• Normal Phosphorylase Kinase Activity in Muscle
• Glycogen in Muscle Increased
• Mild Atrophy
• Caused by Mutation in the T Box 15 Gene
• GRHPR Activity Decreased
• Urine L-Glycerate Increased
• Urine Oxalate Increased
• Caused by Mutation in the FK506-Binding Protein 10 Gene
• Some Features Are Variably Present
• Mutation in the ZBTB20 Gene
• Weight >90th Percentile
• Repetitive Compulsive Movements
• Insulin-Resistant Diabetes Mellitus in Adulthood
• Mutation in the Glypican 6 Gene
• Mutation in the Alpha 1 Gap Junction Protein Gene
• Distal Interphalangeal Joints Enlarged
• Variable Cutaneous Syndactyly Involving Fingers 3, 4, and 5
• Large Fontanelles at Birth
• Long Narrow Nose
• Hypoplastic Eyebrows
• Abnormal Growth Hormone Response to Stimulus
• Dysdiadochokinesis
• See Also X-Linked Leigh Syndrome
• Relative Sparing of the Tibialis Anterior Muscle
• Relative Sparing of the Rectus Femoris
• Basal Metabolic Rate Normal
• Caused by Mutation in the WD Repeat Containing Protein 73 Gene
• Hypertrophic Podocytes
• Mutation in the Tubulin Gamma Complex Associated Protein 6 Gene
• Microcephaly (up to 11 SD)
• Mutation in the GPX4 Gene
• Onset Ranges from Young Adulthood to Sixties
• Mutation in the 33 kD Acidic Cluster Protein Gene
• Extrapyramidal Signs - Thinning of the Corpus Callosum
• Primitive Reflexes
• Patellar Subluxation
• Head Circumference >97th Percentile
• No Hydrocephalus
• Enlarged Corpus Callosum
• Hyperextensibility of Hands
• Posterior Spinal Arch Fusion Defect
• Wide Asymmetric Foramen Magnum
• Repeated Fractures
• Recurrent Infections (Pulmonary, Skin, Teeth)
• Brown Discolored Teeth
• Excessive Skin Wrinkling of Palms and Soles
• Metacarpophalangeal Joint Hyperextensibility
• Bowing of Radius and Ulna
• Dysplasia of Radial Head
• Dysplasia of Distal Humerus
• Dysplasia of Glenoid
• Dysplasia of Proximal Humerus
• Gibbus Deformity at L1 Level
• Atlanto-Occipital Instability
• Atlanto-Axial Instability
• Extensive Caries
• Motor Delay
• Bronchiectasis due to Chronic Upper Respiratory Tract Infections
• Neonatal Collodion Skin
• Alpha Hydroxyadipic Aciduria - Alpha Aminoadipic Aciduria
• Caused by Mutation in the Prokineticin Receptor-2 Gene
• Hyperlaxity of Digits
• Fibrous Dysplasia