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22401 to 22500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Enterocyte Tufting
Ureteral Duplication
De Novo Mutation Identified in Some Patients
Neonatal Lethal due to Respiratory Insufficiency
Atelectatic Lungs
Marked Brachydactyly
Tibia Longer than Fibula
Bowing of Ulna
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
Neonatal Pulmonary Hypertension
Muscularization of Arterioles Increased
Deficient Capillarization of Airspace Walls
Alveolar Capillary Dysplasia
Mutation in the COLEC11 Gene
Diabetes Mellitus Develops in Adolescence
Increased Urinary Magnesium
Death in Neonatal Period
Vacuolar Cardiomyopathy
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
Tics or Anxieties
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
Widely Separated Sutures at Birth
Large Fontanelles at Birth
Long Narrow Nose
Hypoplastic Eyebrows
Abnormal Growth Hormone Response to Stimulus
Insulin-Like Growth Factor I Levels Low
Dysdiadochokinesis
Mutation in the Phosphoglycerate Dehydrogenase Gene
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
Hirsutism of Arms and Legs
Hyperextensibility of Hands
Posterior Spinal Arch Fusion Defect
Wide Asymmetric Foramen Magnum
Repeated Fractures
Recurrent Infections (Pulmonary, Skin, Teeth)
Brown Discolored Teeth
Carp Mouth
Mild Pulmonary Artery Dilation
Excessive Skin Wrinkling of Palms and Soles
Sandal Gap
Metacarpophalangeal Joint Hyperextensibility
Flared Epiphyses
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