31501 to 31600 most common queries

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

• Short Wide Flat Thorax
• Open Posterior Fontanelle
• Severe Growth Retardation if Untreated
• Non-Goitrous Hypothyroidism
• Genetic Heterogeneity - See SPG5A for Overview of Recessive SPGs
• Other Tumors May Also Occur
• Caused by Mutation in the Homolog of the E Coli mutS 2 Gene
• Mutation in the Homolog of the E Coli MutL1 Gene
• Functional Ovaries
• Aplastic Fallopian Tubes
• Congenital Absence or Severe Hypoplasia of Uterus
• Dysgenesis of Mullerian Duct Derivatives
• Aplasia of Mullerian Duct Derivatives
• Normal External Genitalia
• Normal Female Secondary Sexual Characteristics
• Mutation in the LMBR1 Domain Containing Protein 1 Gene
• Distal Atrophy of the Legs
• Macroorchidism
• Mood Instability
• Possibly Somatic or Germline Mosaicism
• Highly Variable Phenotype in Females
• Mutation in the Doublecortin Gene
• Limb Spasticity
• Seizures Often Associated with Fever
• Intellectual Disability Is Variable
• Controlling and Inflexible Traits in Male Carriers
• Obsessive Features in Male Carriers
• Carrier Males Show Rigid Personality
• Obsessive Features
• Normal Development in Some Patients
• Developmental Regression in about 50% of Patients
• Possibly Developmental Delay from Birth
• Phenotypic Similarities to Angelman Syndrome
• Pointed Jaw
• Low Weight (Third Percentile)
• Easily Provoked Laughter
• Widespread Neuronal Loss
• Pronounced Overaction of the Frontalis Muscle
• Absent Upper Lid Skin Crease
• Allelic to Rett Syndrome
• Loss of Purposeful Hand Movements
• Stereotypic Hand Movements
• Caused by Mutation in the Creatine Transporter Gene
• Urine Creatine : Creatinine Ratio Increased
• Mutation in the CUL4B Gene
• Speech Impaired or Absent
• Wide Sandal Gap
• Short Stature - 5th Percentile
• Mutation in the JARID1C Gene
• Attentional and Executive Function Impaired
• Impaired Visuospatial Perception
• Schizophrenia-Like Symptoms
• Posterior Slow-Wave Activity
• Mutation in the ARHGEF9 Gene
• Seizures Are Poorly Controlled
• Seizures Provoked by Tactile Stimulation or Extreme Emotion
• Tonic Hyperekplectic Seizures
• Defect in Oxidative Phosphorylation
• Malar Flatness
• Bifrontal Narrowness
• Generalized Severe Growth Retardation
• Weight for Age Decreased
• Recurrent Mycobacterial Disease (BCG and M. Tuberculosis)
• Partially Responsive to Laser Treatment
• Mildly Dystrophic Nails
• Usually No Inflammation
• Palms Soles and Oral Mucosa Are Not Involved
• Extensive Cutaneous Involvement Rarely Occurs
• Lesions Occur on the Trunk, Back, Arms, Legs, Abdomen, Buttocks
• Lesions Often Follow Blaschko Lines
• Subepidermal Capillary Ectasia
• Non-Purpuric Punctate and Linear Erythematous Rash
• Benign Esophageal Papillomas
• Heterozygous Females May Exhibit Variable Degrees of Enzyme Deficiency
• Caused by Mutation in the Phosphoglycerate Kinase 1 Gene
• Hemolytic Anemia in about 60% of Patients
• Activity of Phosphoglycerate Kinase 1 Decreased
• Myopathy in Approximately 45% of Patients
• Possibly Renal Failure with Myoglobinuria
• Central Nervous System Involvement in Approximately 50% of Patients
• MECP2 Mutations Are Those Found in Females with Rett Syndrome
• Death Usually within First 2 Years of Life
• Mutation in the MECP2 Gene
• Dyskinetic Movements
• Severe Neonatal Encephalopathy
• Mutation in the Four-and-a-Half-LIM Domains Protein 1 Gene
• Arrhythmias May Occur
• Arm Weakness
• Progressive Muscle Wasting
• Muscle Atrophy Later in the Disease
• Patients Achieve Ambulation
• Symptoms Tend to Improve with Age
• See Also Later Childhood Onset Form
• Death in Childhood is Frequent due to Respiratory Failure
• Loss of Antigravity Strength
• See also Severe Early-Onset Form
• Female Carriers Possibly Less Severely Affected
• Cervical Hyperextension
• Spinal Mobility Decreased
• Inclusions Stain Positively with Nitroblue Tetrazolium