19901 to 20000 most common queries

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

• Camptodactyly - Third and Fourth Digits
• Syndactyly Third and Fourth Digits
• Monodactyly
• Distal Femoral Bifurcation
• Tibial Aplasia or Hypoplasia
• Onset in Infancy up to 3 Years
• Gait Impairment
• Contiguous Gene Deletion Syndrome
• Immunosuppressive Therapy May Be Beneficial
• Relapsing-Remitting Course
• Exacerbations During Infection
• Onset in Infancy - 3 to 7 Months
• Caused by Mutation in the CD59 Antigen Gene
• Absence of CD59 Expression on Red Cells
• Secondary Axonal Damage
• Partial Cleft Palate (Homozygotes)
• Mild to Severe Mixed Hearing Loss
• Near Stenosis of Bony Portion of Auditory Canal in Homozygotes
• Severe Narrowing of Cartilagenous Auditory Canal in Homozygotes
• Obliteration of Peripheral Retinal Blood Vessels
• Complete Blindness at Age 40-50 Years
• Loss of Central Vision at Age 25-30 Years
• Night Blindness by Age 20 Years
• Constricted Visual Fields by Age 20 Years
• Dystonic Vocal Tremor
• Caused by Mutation in the AARF Domain Containing Kinase 3 Gene
• High Prevalence Among French Canadians
• Caused by Mutation in the Methionyl-tRNA Synthetase 2 Gene
• Mutation in the Kinesin Family Member 1C Gene
• Regression in Infancy
• Variable Abnormalities
• Diagnosis in Early Childhood
• Sloping Acetabula
• Heterozygous Mutation Carriers May Show Mild Symptoms
• No Ichthyosis
• Lipid Vacuoles in Leukocytes (Jordans' Anomaly)
• Vacuoles Containing Neutral Lipids Seen on Muscle Biopsy
• Proximal Limb Weakness Followed by Distal
• Caused by Mutation in the Cofilin 2 Gene
• Minicores or Core-Like Regions May Be Present
• Dystrophic Features (Later Symptom; Muscle Biopsy)
• Fiber Type Variation Seen on Biopsy
• Caused by Mutation in the Coagulation Factor XII Gene
• Episodic Laryngeal Swelling
• Episodic Respiratory Compromise due to Swelling
• Episodic Facial Swelling
• Episodic Intestinal Edema
• Respiratory Muscle Weakness May Occur
• Breathing Difficulties Due to Choanal Atresia
• Moderate Atrophy of Optic Disc
• Rod and Cone Responses Undetectable (ERG)
• Mutation in the RNASEH2A Gene
• Cerebrospinal Fluid Interferon Increased
• No Evidence of Prenatal Infection
• Cerebrospinal Fluid Pterin Levels Elevated
• Cerebrospinal Fluid Interferon Levels Elevated
• Mild Decrease in Mitochondrial Respiratory Chain Activity
• Abnormal Fibrils in Stroma (EM)
• Congenital Fibrosis of the Extraocular Muscles
• Contralateral Hemianopsia
• Variable Penetrance
• Mild Hearing Loss
• Bilateral Hypoplastic Oculomotor Nerves
• Oculocutaneous Hypopigmentation
• Marcus Gunn Jaw Winking
• Extraocular Muscle Fibrosis
• Cataracts Present at Birth or Develop in Infancy
• Prevalent in Quebec
• May Result in Early Death from Severe Diarrhea
• Very Long Chain Fatty Acids Increased
• Loss of Purkinje Cells in the Cerebellum
• Late Onset Dysphagia
• Vital Capacity Decreased due to Muscle Weakness
• Vital Capacity Restricted
• Highly Variable Intrafamilial Severity
• Mutation in the Tripeptidyl Peptidase 1 Gene
• Cerebellar Atrophy (MRI)
• Low to Moderate Myopia
• Limb Contractures by Age 4-5 Years
• No Neurologic Abnormalities
• Patients Exhibit No Signs of Ocular or Cutaneous Albinism
• Retinochoroidal Coloboma
• Optic Nerve Misrouting on Visual Evoked Potential Analysis
• Absence of Foveal Pit on Optical Coherence Tomography
• Absence of Foveal and Macular Reflexes
• No Foveal Avascularity
• Absence of Foveal Hyperpigmentation
• Mutation in the B4GALNT1 Gene
• Hyporeflexia (Later)
• Upper Limb Involvement
• Retained Nuclei in Stratum Corneum
• Absence of Stratum Granulosum
• Numerous 'Confetti-Like' Scattered Patches of Normal Skin
• Erythematous Ichthyotic Skin with Reticulate Pattern
• De- or Hypo-Pigmented Macules
• Hyperpigmented 2 to 5 mm Macules Mainly on the Extremities
• Wide Variation in Fiber Size
• Decreased Myelination Seen on MRI
• Lack of Situs Inversus
• Microcephaly (7-17 SD)