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29601 to 29700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Diverticular Perforation
Severely Wasted Build
Flat Thin Pectus
Bladder Enlarged
Recurrent Cystitis
Recurrent Large Subcutaneous Hematomas
Mildly Enlarged Ventricles
Caused by Mutation in the LIM Domain Binding Protein 3 Gene
Left Ventricular Non-Compaction
Left Ventricular Dilation
Abnormal Bone Marrow Karyotype
Onset: Childhood to Adult
Audiogram May Be Ascending
Mutation in the SLC26A2 Gene
Mutation in the Ankyrin 2 Gene
Absent Delayed Hypersensitivity Skin Test
Numbers of Natural Killer Cells Markedly Reduced
Intrinsic B Cell Defect
Increased Proportion of CD19+ B Cells
Markedly Reduced CD3+ Proportion
Undetectable or Absent Peripheral Lymph Nodes
Complex Congenital Heart Defect
Metatarsal Synostoses (2-5)
Brachymetatarsy Rays 3-5
Dysfunctional Ankle Joints
Metacarpal Synostosis (2-5)
Brachymetacarpy (Rays 3-5)
Mild Vertebral Anomalies
Limited Range of Joints Motion
Hypoplasia of the Soft Palate
Short Umbilical Cord with Unusually Long Skin Coverage
Familial Enteropathy
Highly Variable Phenotype That Includes Several Subtypes
No Leukocyte Inclusions on Giemsa Staining
Mutation in the WD Repeat Containing Protein 62
Relative Preservation of the Cerebellum
Abnormal Gyral Pattern
Small Brain
Deformities of Metatarsal Bones
Partial Duplication of mtDNA
Episodic Cold-Triggered Erythrocyanosis of Toes and Fingers
Heteroplasmic Partial Duplication of mtDNA
Urinary Loss of Potassium, Sodium, Calcium and Chloride
Frequently Death in Infancy
Deletion of mtDNA
Vacuolization of Bone Marrow Precursors
Plasma Ketone Body or Lactate : Pyruvate Ratios Increased
Mitochondrial Deletions
3-Methylglutaconicaciduria
Exocrine Pancreatic Dysfunction
Mutation in the MTND6 Gene
Mutation in the Mitochondrial Transfer RNA Serine 2 Gene
Mutation in the MTTH Gene
EM Shows Subsarcolemmal Pleomorphic Mitochondria
Resting and Exercise-Induced Lactate Increased
Ragged Red Fibers on Muscle Biopsy
Episodic Sudden Headache
Caused by Deletion of Multiple Genes in the Mitochondrial DNA
Cerebrospinal Fluid Protein Increased > 100 mg dl
-1
Ragged Red Fibers (Muscle Biopsy)
Normal Cognition
Caused by Mutation in the Sedlin Gene
Mutation in the Retinoschisin Gene
Significantly Decreased Axial Length
About 8% of Female Mutation Carriers Develop Dilated Cardiomyopathy
Mild Muscle Weakness in 20% of Female Mutation Carriers
Mild Dwarfism
Esophageal Leiomyomatosis
Genital Leiomyomatosis
Allelic Disorder to IFAP Syndrome
Mutation in the MBTPS2 Gene
Dry Bumpy Skin
Mental Retardation, Spasticity and Adducted Thumbs in Survivors
Mutation in the L1 Cell Adhesion Molecule Gene
Mutation in the FGD1 Gene
Mild to Moderate Growth Deficiency
Color Vision Defects Not in All Cases
Retinal Pigment Abnormalities
Electroretinographic Flicker Reduced
Refractive Error - Usually Combined Hyperopic Astigmatism
Stereopsis Decreased to Absent
Null Point Shifts Every Few Seconds to Minutes
Adult Onset May Also Occur
Mutation in the ATPase, Cu++ Transporting, Alpha Polypeptide
Mild Distal Sensory Impairment
Survival to Advanced Age
Usually Onset in 3rd or 4th Decade of Life
Caused by Mutation in the Dystrophin Gene
Muscle Biopsy Shows Abnormal Dystrophin
Speech Delay
Mutation in the RAB39B Gene
Some Female Carriers Are More Mildly Affected
Early Death in Males
Mutation in the X-Linked Aristaless-Related Homeobox Gene
Pinched Nasal Alae
Thin Optic Nerves
Underdeveloped Scrotal Folds
Gliosis of the White Matter
Dysplastic Basal Ganglia
Moderately Thickened Cortex