21101 to 21200 most common queries

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

• Caused by Mutation in the Periaxin Gene (PRX)
• Focally Folded Myelin
• Focal Myelin Thickening
• Sural Nerve Biopsy Shows Demyelination
• Onset in Young Adulthood
• Mutation in the DNAJ-HSP40 Homolog Subfamily B Member 2 Gene
• Mild Dysphonia
• Mild Proximal Muscle Weakness of Lower Limbs
• Distal Muscle Weakness (Lower Limbs > Upper Limbs)
• Amplitudes of Lower Limb Motor Nerves Decreased
• Areflexia of the Upper and Lower Limbs
• Mutation in the Heparan Sulfate 6-O-Sulfotransferase-1 Gene
• Bilateral Genu Valgum
• Osteopenia or Osteoporosis
• Small Pituitary Gland
• Gonadotropins Low to Normal
• Testosterone Low in Males
• Lack of LH Pulsatility
• Skin Lesions Worsen with Heat or Sun Exposure
• Mutation in the PLCG2 Gene
• Lack of Autoantibodies
• Memory B-Cell Dysfunction
• Corneal Erosions
• Prevalent Among the Amish
• Mutation in the HEAT Repeat Containing Protein 2 Gene
• Severely Impaired Ciliary Motility
• Variable Defects of Inner Dynein Arms
• Infertility due to Immotile Sperm
• Transient Evoked Otoacoustic Emissions Cannot Be Detected
• No Auditory Brainstem Response to 100 dB Stimulus
• Caused by Mutation in the WD Repeat-Containing Protein 11 Gene
• Thelarche Delayed or Absent
• Gonadotropins Low or Normal
• Estradiol in Females Low
• Patients Have Normal Pituitary Function
• Mutation in the ABCD4 Gene
• Enlarged Right Ventricle
• High Deoxypyridinoline - Creatinine
• Procollagen 1C Peptide Low
• Alkaline Phosphatase Normal to Slightly High
• Serpentine Thin Tibiae and Fibulae
• Movements of the Knee Joints Limited
• Bowing of Lower Extremity Long Bones
• Bowing of Long Bones in Upper Extremity
• Osteoporosis Borderline
• Faint Blue Sclera
• No Hearing Impairment
• Deformed Clavicles
• Delayed Gross Motor Development
• Mutation in the Ninein Gene
• Abnormal Carpal Bones
• Mild Lumbar Scoliosis
• Delayed Bone Age during Childhood
• Prepubertal Breast Development
• Small Uterus (Prepubertal Size)
• Insensitivity to Growth Hormone Therapy
• Follicle-Stimulating Hormone Normal
• Luteinizing Hormone Normal
• Cerebellar Vermis Hypoplasia
• JBTS Shows Autosomal Dominant Inheritance
• NPHP Shows Autosomal Recessive Inheritance
• Caused by Mutation in the Zinc Finger Protein 423 Gene
• Mutation in the RTTN Gene
• Mild Microcephaly
• Kidney Volume Decreased
• Diffuse Asymmetric Polymicrogyria
• Mutation in the GRM1 Gene
• Abduction Deficits
• Brain Size Decreased
• Mild Pyramidal Signs
• Cerebellar Ataxia Gait and Stance
• Lack of Speech Development
• Most Patients Die within the First Year of Life
• Present in Infancy in all Affected Individuals
• No Other Ocular Defects
• Congenital Horizontal Pendular Nystagmus
• Mutation in the SMAD6 Gene
• Mutation in the SEPT12 Gene
• Oligoasthenozoospermia
• Asthenoteratozoospermia
• Teratozoospermia
• Spermatogenic Failure
• Most Cases due to De Novo Mutation
• Mutation in the ATP1A3 Gene
• Interictal Neurologic Impairment
• Autonomic Involvement
• Renal Failure in 3rd to 6th Decade
• Mutation in the FAN1 Gene
• Possibly Karyomegaly in other Visceral Organs
• Cystic Dilation of Tubules
• Large Nuclei in Renal Tubules Seen Renal Biopsy
• Patients Do Not Have Ectopia Lentis
• Mutation in the TGFB2 Gene
• Fusiform Dilation and Tortuosity of Cerebrovascular Arteries
• Cerebrovascular Aneurysm
• Mutation in the TCTN3 Gene
• Severe Kyphoscoliosis
• No Defects Reported
• Asymmetric Reductions of the Feet
• Asymmetric Shortening of the Hands