24901 to 25000 most common queries

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

• 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
• Plasma Ketone Body or Lactate : Pyruvate Ratios Increased
• Mitochondrial Deletions
• 3-Methylglutaconicaciduria
• 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
• Significantly Decreased Axial Length
• About 8% of Female Mutation Carriers Develop Dilated Cardiomyopathy
• Mild Muscle Weakness in 20% of Female Mutation Carriers
• Mild Mental Retardation, More Severe in 20% of Patients
• 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
• Moderately Thickened Cortex
• Anterior Pachygyria and Posterior Agyria
• Lissencephaly - Posterior to Anterior Gradient
• Learning Difficulties in Affected Females
• Distal Spasticity
• No Development
• Temperature Regulation Impaired
• Some Females Are Affected
• Auditory Impairment
• Caused by Mutation in the Fumarylacetoacetase Gene
• Mutation in the CUL7 Gene
• Short Disproportionate Stature - Short-Trunked
• Severe Streptococcus Pneumoniae Infections in Most Patients
• Life Threatening in Infancy due to Sepsis
• Recurrent Severe and Invasive Bacterial Infections
• Severe Epilepsy May Lead to Early Death
• Onset at Age 6 to 18 Months
• Uncontrolled Rage
• Stroke-Like Lesions
• Brain MRI Shows Lesions Consistent with Epileptic Episodes
• Atrophy of the Posterior Columns and Spinocerebellar Tracts
• Mitochondrial DNA Depletion in Brain Tissue
• Hypergonadotrophic Hypogonadism
• Age at Onset: 1-47 Years
• Upper Limb Involvement May Occur
• Shallow Indolent Cutaneous Ulcers
• Restricted Range of Movement in Some Joints
• Hypermobile Joints
• Mesodermal Iris Dysgenesis
• Subluxated Thumbs
• Fusion of Metacarpal Bones
• Hypoplastic Fibula
• Deformity of the Distal Extremity of the Humerus
• Hip Subluxation