22501 to 22600 most common queries

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

• Dysmorphic Appearance of Femoral Head
• Atlanto-Occipital Instability
• Atlanto-Axial Instability
• Extensive Caries
• Flat Face
• Gracile Ribs
• Generalized Cortical Atrophy
• Motor Delay
• Bronchiectasis due to Chronic Upper Respiratory Tract Infections
• Neonatal Collodion Skin
• Alpha Hydroxyadipic Aciduria - Alpha Aminoadipic Aciduria
• Caused by Mutation in the Prokineticin Receptor-2 Gene
• Hyperlaxity of Digits
• Fibrous Dysplasia
• Fatal in First Few Months of Life in Most Cases
• Thymus Hypoplasia
• Variable Severity
• Mutation in the SCN9A Gene
• Distal Painless Ulcers
• Ulceration of Digits
• Numbers of Tongue Fungiform Papilla Reduced
• Asymmetric Hearing Impairment
• Sensory Nerve Conduction Velocities Decreased
• Sensory Nerve Action Potential Amplitudes Reduced
• Loss of Myelinated Fibers Seen in Sural Nerve Biopsy
• Temperature Sensation Possibly Decreased
• Alternating Birefringent Pattern on Polarization Microscopy
• Irregular Ridged Surface on Light and Electron Microscopy
• Sulfur Content of Hair Decreased
• Cystine Content of Hair Decreased
• Stubby Eyebrow Hair
• Short, Wooly Hair
• Dyschromic Nails
• Ichthyosiform Areas of Skin
• Delayed Ossification
• Hypoplastic Teeth
• Anteverted Nares
• Thick Alae
• Large and Depressed Nasal Root
• Brittle and Sparse Eyelashes
• Brittle and Sparse Eyebrows
• Mild Retrognathia
• Cortical Atrophy
• Partial Agenesis of the Corpus Callosum
• Severe Hypotonia
• Beta-Oxidation of Pristanic Acid Decreased
• Spastic Diplegia
• Mutation in the GORAB Gene
• Skin Wrinkling - Limited to Dorsum of Hands and Feet and Abdomen
• Irregular Endplates (in Adults)
• Platyspondyly (in Adults)
• Relative Prognathism
• Droopy Face
• Normal Fontanels
• Mutation in the ANTXR1 Gene
• Mutation in the Collagen XI Alpha 1 Polypeptide Gene
• Mutation in the CDH3 Gene
• Mutation in the Homolog of the Drosophila Atonal Protein 7 Gene
• Autofluorescent Pigment in Microglia and Macrophages
• Absence of Vestibular Evoked Myogenic Potentials
• No Reproducible Waves I, III or V at High Intensities
• Bilateral Dys-Synchronized Auditory Brainstem Responses
• Absent Cochlear Microphonic
• Increase in Amplitude and Duration of Cochlear Microphonic
• Absent Ipsilateral Middle Ear Muscle Reflexes
• Distortion Product Otoacoustic Emissions Absent
• Severe to Profound Hearing Impairment by Early Adulthood
• Effacement of Epithelial Foot Processes
• Mutation in the Gap Junction Protein Alpha 1 Gene
• Defective Enamel Formation
• Mutation in the WDPCP Gene
• Bilateral Broad Hallux
• No Oral Cleft
• No Tongue Lobulation
• Tongue Polyps (Hamartomas)
• Normal Intellectual Development
• Caused by Mutation in the Cyclin M4 Gene
• Small Cornea
• Lens Opacity Mild
• Hypertropia
• Reduced Visual Evoked Potentials
• Anomalies of the Foramen Magnum
• Abnormally Shaped Ears
• Omovertebral Bone
• Long, Hyperextensible Fingers
• Vertebral Segmentation Defects
• Wide Ala Nasi
• Frontal Upsweep
• Birthweight > 90th Percentile
• Affable Demeanor
• Cerebellar Herniation
• Cyst of Septum Pellucidum
• Hypoplasia or Dysgenesis of the Corpus Callosum
• Enlarged or Prominent Ventricles
• Non-Verbal
• Aberrant Patellae
• Polydactyly, Usually Postaxial
• Early Death Often due to Respiratory Complications
• Choanal Atresia or Choanal Stenosis
• Mutation in the Alsin Gene