×
This website uses cookies to ensure you get the best experience on our website.
Privacy
Okay
Any Age
years old
years
Any Age
Newborn
Toddler
Child
Teenager
Adult
Senior
Any Sex
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