23501 to 23600 most common queries

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

• Bilaterally Inverted Nipples
• Limited or Nonverbal Speech
• Height in Females Increased
• Uterus Hypoplastic to Normal
• Dysgenetic Testes
• Normal-Appearing Female External Genitalia
• Ambiguous Male External Genitalia
• Mutation in the FADD Gene
• Left Sided Superior Vena Cava Draining Into Left Atrium
• Increased Fas Ligand
• Number of CD4- CD8- TCR-Alpha-Beta+ T Cells Increased
• Functional Hyposplenism
• Mild Liver Dysfunction
• Muscle Mass in the Thighs Decreased
• Neonatal Hypotonia and Later
• Amicable Behavior
• Diffuse White Matter Loss
• Mutation in the RHO Gene
• Early Onset Night Blindness and Abnormal Fundus
• Inferior and Inferonasal Retinal Pigmentation
• Abnormal Electroretinograms in Heterozygotes
• Mutation in the Phospholipase C Beta 1 Gene
• Regression of Development
• Psychomotor Development after Onset of Seizures Delayed
• Suppression with Ictal Burst Activities
• Abundant Slow-Waves and Fast Spike Activity
• Full Recovery after Attacks
• Onset Usually Associated with Febrile Illness
• Onset of Acute Encephalopathic Attacks in Childhood
• Cerebrospinal Fluid Lactate Increased during Acute Episodes
• Forefoot Supination
• Distal Joint Contractures - Lower Limbs
• Distal Muscle Atrophy due to Neuropathy
• Lesions in the Caudate and Putamen Seen on MRI
• Episodic Encephalopathic Attacks Associated with Infection
• Mutations with Partial Penetrance
• Caused by Mutation in the Presenilin-2 Gene
• Caused by Mutation in the Presenilin 1 Gene (PSEN1 104311-0034)
• Absence of All Distal Creases of Second to Fifth Digits
• Hypoplasia or Absence of Distal Phalanges of Great Toes
• Absence of Distal Phalanx of Fifth Digit
• Hypoplasia of Distal Phalanges of Second to Fourth Digits
• Breast Hypertrophy in Females
• Unilateral Vertebral Artery Hypoplasia
• Rib Fusion at Multiple Points
• Rib Number Reduced
• 1 Mb Duplication on Chromosome 2q31.1
• Hypoplastic Triphalangeal Thumb
• Complex Hand Anomalies
• Ulnar Shortening
• Congenital Heart Defects (21%)
• Plexiform Neurofibroma (76%)
• Cutaneous Neurofibromas
• Subcutaneous Neurofibromas
• Accelerated Carpal Bone Age
• Large Hands (46%)
• Joint Laxity Increased
• Bone Cysts (50%)
• Malignant Peripheral Nerve Sheath Tumors (21%)
• Optic Glioma (19%)
• Lisch Nodules (Iris Hamartomas) in 93%
• Soft Fleshy Palms (50%)
• Attention Difficulties
• Hyperintensities (T2, 17%)
• Spinal Neurofibromas
• Speech Difficulties (48%)
• Delayed Cognitive Development and Learning Disabilities (93%)
• Some Phenotypic Overlap with Alpers Syndrome
• Onset in Infancy or Late Childhood
• Some Patients May Have Hepatic Dysfunction
• Decreased Activities of Complexes I and IV
• Death by Age 2 Years
• Caused by Mutation in the Homolog of the S. Cerevisiae Alg11 Gene
• Di- and Asialo-Transferrin Increased
• Widespread Brain Calcifications
• C1Q Molecule Present but Dysfunctional
• Caused by Mutation in the KIAA0415 Gene (KIAA0415 613653-0001)
• Hypoplastic Metatarsals and Phalanges of the Great Toes
• Sandal-Toe Gap between Great and Second Toe
• Short Middle Phalanges of Second through Fifth Fingers
• Lymphedema Resolves by Age 3 Years
• Lymphedema of the Extremities
• Onset of Dysmorphic Features and Developmental Delay in Infancy
• Intermediate Level of Cellular Sensitivity to UV Light
• Congenital Cardiac Defects
• No Autism
• Mutation in the RP1-Like Protein 1 Gene
• Focal Macular Electroretinogram Severely Reduced
• Full-Field Electroretinogram Normal
• Ophthalmoscopy Shows Normal Fundus
• Slowly Progressive Decreased Visual Acuity
• Electroretinogram Reduction as Early as 4 Years of Age
• Lack of Foveal Reflex
• Markedly Reduced or Completely Extinct Electroretinograms
• Markedly Constricted Visual Fields
• Severe Early Onset Eye Disease
• Pigmentary Retinopathy with Typical Bone Spicule Appearance
• Thin Body Hairs
• Yellowish Toenails
• Yellowish Fingernails