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29801 to 29900 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Vacuolar Degeneration
Mutation in the MLYCD Gene
Branchial Dysplasia
Interlobular Bile Duct Deficiency
No Atherosclerosis, Cardiac Ischemia, or Metabolic Abnormalities
Prominent Subcutaneous Venous Patterns
Sparse to Absent Scalp Hair (Onset in Second Decade of Life)
Osteolysis of Distal Phalanges
Osteolysis of Radii
Severe Osteolysis
Mandibular Osteolysis
Osteolysis of Ribs
Osteolysis of Clavicles
Generalized Lipoatrophy
Spontaneously Resolves by 5 to 6 Months of Age
Mutation in the HBG2 Gene
Reticulocytosis
Hemoglobin Oxygen Saturation Decreased
Oxygen-Binding Capacity of Hemoglobin Decreased
Mutation in the BTBD12 Gene
Hypopigmentation Spots
Isolated Thrombocytopenia
Absent Thumbs
Squamous Cell Carcinoma
Malformed Auricle
Hypoplastic Malleus
Pelvic Kidney
Amnesia for Events
Sleep Terrors Usually Remit during Adolescence
Onset of Sleep Terrors at Age 4-12 Years
Sleepwalking Triggered by Alcohol, Sleep Deprivation, Stress
Sleepwalking Usually Remits in Adolescence
Onset of Sleepwalking between 4 and 8 Years Old
Association with Autoimmune Diseases
C3 Nephritic Factor Autoantibodies
Mutation in the CFD Gene
Decreased Activity of Complement Factor D
Complement Factor D Decreased
Mutation in the Cyclin M2 Gene
Mutation in the BCL2-Associated Athanogene 3 Gene
Relatively Short Limbs
Multiple Bone Deformities
Open Anterior Fontanel
Weight Less than 5th Centile
Renal Stones, Bilateral
As of Aprill 2011, 2 Patients Have Been Described in Detail
Onset in Adolescence
Mutation in the PRICKLE2 Gene
Late Loss of Visual Acuity
Distal Loss of Vibratory Sense
Cerebral and Cerebellar Atrophy
Reported in Individuals of Sephardic Jewish Ancestry
Progressive Cerebral Atrophy (Anterior to Posterior)
Mild Chorea
Mutation in the CDC6 Gene
Clinodactyly Fifth Toes
Hypermobility of Fingers
Hypoplastic and Irregular Tibial Epiphyses
Hypoplastic and Irregular Femoral Epiphyses
Knee Hypermobility
Elbow Hypermobility
Bilaterally Absent Helices
Gastroesophageal Reflux in Early Infancy
Abnormal Glenoid Fossa
High Intellect
Mutation in the ORC6 Gene
Dyspnea Secondary to Thorax Morphology
Abnormal Tibial Epiphyses
Abnormal Femoral Epiphyses with Flat Metaphyses
Abnormal Humeral Epiphyses with Flat Metaphyses
Frontal Circular Lacuna
Mutation in the PDE6B Gene
Abnormal Rod and Cone Electroretinograms
Retinal Vessels Attenuated
Proximal Interphalangeal Camptodactyly of Fifth Fingers
Hyperextensible Joints - Especially Elbows and Knees
Small External Auditory Meatus
Feeding Problems in Early Infancy
Mild Hypoplastic Labia Majora
No C8 Antigen Detected
Recurrent Neisseria Infections (History)
Mutation in the Complement Component 3 Gene
Decreased C3 Antigen
C3 Activity Decreased
Sudden Cardiac Death in Some Families
Genetic Heterogeneity - See Familial Hypertrophic Cardiomyopathy Type 1
Caused by Mutation in the Cardiac Troponin I Gene
Ventricular Preexcitation - Wolff Parkinson White
Apical Hypertrophy
Vertebral Borders Rounded Anteriorly and Posteriorly
Falx Cerebri Precocious Calcification of
Mutation in the CENPJ Gene
Prominent Nasal Spine
Intellectual Impairment
Uveal Effusion
Macular Pigment Migration
Reduction of Capillary-Free Zone
Papillomacular Retinal Fold Elevated
Foreshortening of Axial Length of Eyes
Mildly Delayed Motor Development due to Vestibular Dysfunction