34601 to 34700 most common queries

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

• Mutation in the Heparan Sulfate 6-O-Sulfotransferase-1 Gene
• Caused by Mutation in the Lamin A-C Gene
• Low Cholesterol Esterification Rates
• Episodic Neonatal Apnea
• Growth Retardation in Childhood
• May Progress to Upper Limbs
• Fine Upper Lip
• Broad Fifth Finger
• Lack of Spontaneous Movement
• Amyloid Deposits in Corneal Stroma
• Folliculitis Decalvans
• Retinal Pigment Epithelial Defects in the Temporal Nerve Fiber Bundle
• Aplasia or Hypoplasia of Pectoral Muscle (Poland Syndrome)
• Tubular Resorption of Phosphate Decreased
• Caused by Mutation in the valyl-tRNA Synthetase 2 Gene
• Sphingomyelinase Activity Normal or Mildly Reduced
• Sparse Lusterless Scalp Hair
• Osteopenia or Osteoporosis
• Moderately Decreased to Normal PHK Activity in Skeletal Muscle
• Fifth Finger Duplication Well-Formed
• Mildly Decreased Nerve Conduction Velocities
• Caused by Mutation in the Mitofusin 2 Gene
• Mutation in the Myosin Va Gene
• Upper Part of Thorax Narrowed
• Mild Nail Hypoplasia
• Thick Ropy Lattice Lines in the Corneal Stroma
• Wheelchair Use by 10-30 Years
• Microscrotum
• Yellow Lesions Hypofluorescent on Angiography
• Possibly Deficiency of Multiple Mitochondrial Respiratory Complexes
• Caused by Mutations in the Claudin 1 Gene (CLDN1)
• Shallow Anterior Chamber - Eye
• Soft Tissue Calcinosis
• PHK Activity in Liver Decreased
• Raspy Voice
• Gonadotropins Low to Normal
• Neuropathic Changes Seen on EMG
• Mostly Sporadic, Rarely Somatic and Germline Mosaicism
• Decreased Number of Myelinated Fibers May Be Found
• Pachygyria Most Prominent in the Frontal Lobes
• Long Toes
• Mutation in the ALG1 Gene
• Prevalent in North Africa
• Self-Stimulating Behavior
• Cicatricial Frontoparietal Alopecia
• White Matter Abnormalities in the Periventricular Regions
• Normal or Reduced Electrooculographic Values
• Motor Development Mildly Delayed
• Mother Who Carries the Mutation Is Clinically Unaffected
• Truncal Adipose Tissue Normal or Increased
• Abnormal Isoelectric Focusing of Serum Transferrin (Type I Pattern)
• Finger Joint Hypermobility
• Long Fingers
• Mutation in the S Antigen Gene
• Ulnar Hypoplasia
• Lack of LH Pulsatility
• Poorly Controlled Seizure
• Onset in Childhood or Adolescence in Most Patients
• Flexor Plantar Responses
• Complete or Partial Tritan Color Vision Defect
• Small 'Onion Bulbs' May Be Present
• Onset 1-12 Years
• Short Dystrophic Thick Hair
• Loss of Independent Walking by Teenage Years
• Mutation in the POU1F1 Gene
• Aberrant Anterolateral Scalp Hairline
• Alveolitis Leading to Tooth Loss
• Some Patients May Lose Independent Ambulation
• Primitive Reflex
• Skin Lesions Worsen with Heat or Sun Exposure
• Long Thin Hands
• Vitelliform Macular Dystrophy
• Chewing and Swallowing Difficulties
• Mild to Severe Mitral Regurgitation
• Split Anchoring Plaques of Desmosomes in the Granular Layer
• Nerve Biopsy Shows Axonal Degeneration and Regeneration
• Mutation in the SGCG Gene
• Caused by Mutation in the Ferritin Light Chain Gene
• Joint Laxity (Shoulder, Wrist, Finger, Hip, Knee)
• Adhalin Deficiency (Muscle Biopsy)
• Extreme Microphthalmia
• Severe Growth Retardation in Infancy
• Bowman Membrane Absent
• One Family Has Been Reported
• Macular or Extramacular Punctate Yellow Lesions
• Intellectual Function May Be High in Milder Cases
• Hyporeflexia of the Upper Limbs
• Intracytoplasmic Vacuoles in Basal Keratinocytes
• Mutation in the CHCHD10 Gene
• Long Slender Arms and Legs
• Abnormal Precordial Tall R Waves on EKG
• Neonatal Death
• Axonal Atrophy On Nerve Biopsy
• Oculopalpebral Synechia
• Brain Tissue Shows Cavitation of the Basal Ganglia
• Necrosis and Degeneration (Muscle Biopsy)
• Short Stature if Untreated
• Mutation in the Enamelin Gene
• Dyskeratotic Keratinization
• Mutation in the PLCG2 Gene