41201 to 41300 most common queries

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

• Narrow Intertragic Notch
• Wide Space between the Thumbs and the 2nd Fingers
• Stillborn (30%)
• Highly Variable Clinical and Immunologic Phenotype
• Allelic to Autosomal Recessive Deafness Type 23
• Severe, Intractable Diarrhea
• Prominent Psychiatric Symptoms
• Slowing - Delta Waves Central
• Thin Nails
• Total Homocysteine Normal
• Affects Distal Limb and Scalp
• Cerebral Volume Decreased, Especially of the Frontal Lobes
• Hypertonicity of the Lower Limbs
• Lobular Aplasia
• Skin Plaque
• Periventricular White Matter Changes
• Small or Abnormal Placenta
• Short Proximal Arms
• Malformation of the Hepatic Ductal Plate
• Chronic Nonspecific Hepatitis
• Beta-Cell Dysfunction of Varying Degrees
• Numbers of T Regulatory Cells Decreased
• Mean Age at Onset 28 Years
• Mild Methylmalonic Aciduria
• Slowing - Delta Waves Central Left
• Baseline Gonadotropins Increased
• Stage 2: Skin Papules, Verrucous Lesions, Hyperkeratosis
• Retrocerebellar Cysts
• Mutation in the RNA Binding Motif Protein 28 Gene
• Bone Marrow Biopsy Abnormal
• Aplasia of the Corpus Callosum - Encephalocele
• Brain Imaging Shows Hypomyelination
• Brachydactyly - 2nd - 5th Toes
• Trichorrhexis Nodosa Type Defects
• Variable Insulin Resistance
• Coronal Cleft in C2-C5
• Enlargement of the Proximal Femoral Epiphysis
• Insertion of 8 Extra Octapeptide Repeats in the Prion Protein Gene
• Defective T Cell Proliferative Responses
• Deficiency of Mitochondrial Respiratory Enzymes Seen on Muscle Biopsy
• Valvular Heart Disease - Aortic Valve Stenosis
• Slowing - Delta Waves Central Bilaterally
• Occurs in Linear Distribution
• 1.61 and 1.76 Mb Microduplication of 3q29
• Mild Mental Retardation in Most Female Carriers
• Poor or Absent Independent Walking
• Pili Torti Defects
• Left Ventricular Hypertrophy in ECG
• Pancreatic Agenesis or Hypoplasia
• Narrowing of Joint Spaces
• HLA Class II Alleles Specify Ketosis-Prone Diabetes Subgroup
• Key Hole-Like Iris-Retina-Choroid Coloboma
• Fibrillary Plaques in the Cerebellar Cortex
• Hypoplastic Malar Area
• Progressive Postnatal Microcephaly
• Mutations in the GUSB Gene
• Slowing - Delta Waves Temporal
• Affects Limbs and Trunk
• Caused by Mutation in the MKS1 Gene
• Moderate to Severe Mental Retardation - IQ 40 to 60
• Occurs Much More Commonly in Women
• Spasticity Mostly in Lower Limbs
• Alopecia Universalis
• Onset of Symptoms at Age 2-6 Years
• Mild Vision Impairment
• Susceptibility Conferred by Mutation in the Paired Box Gene 4
• Nasal Obstruction Leading to Mouth Breathing
• Slowing - Delta Waves Temporal Left
• See Also X-Linked and Autosomal Dominant Forms
• Onset Birth-Newborn Period
• Skeletal Muscle Fasciculation
• Urine cAMP Response to PTH Decreased
• Perinatal Lethality
• Mutation in the BBS12 Gene
• Epithelial Cells May Be Sloughed Into Cysts
• Affected Individuals Remain Ambulatory in Old Age
• Global Developmental Delay of Variable Severity
• Onset in First Weeks or Months of Life
• Autoimmunity to Pancreatic Beta Cells
• Mutation in the PPIB Gene
• Carrier Frequency in Finland 1:40
• Slowing - Delta Waves Parietal
• Humeri Radii Ulnae Bowing
• Mutation in the BIN1 Gene
• Stage 1 - Skin Erythema, Vesicles, Pustules
• Redundant Connective Tissue
• PTH Mildly Increased
• Mutation in the GRIN2B Gene
• Renal Resistance to PTH
• One Pakistani Reported (as of November 2012)
• Anhidrosis over Skin Lesions
• Dyskinesia
• Peripheral Nerve Biopsy Normal
• Allelic Disorder to Autosomal Dominant SPG13
• White to Gray Sclerae
• Mutation in the BBS10 Gene
• 98% of Finnish Cases due to One Mutation
• Slowing - Delta Waves Occipital Right
• Club-Shaped Distal Femur
• Leukocytosis with Eosinophilia during Stage 1