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26201 to 26300 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Weakness of the Anterior Tibial Muscle and Toe Extensors
Weakness of All Intrinsic Hand Muscles
Weakness of the Extensor Muscles of the Hands
Retinal Vessels Severely Attenuated
Severe Night Blindness
Poor Central Vision or Blindness from Birth
Defective DNA Repair
Cells Show Increased Sensitivity to Ionizing Radiation
Mild Distal Muscle Wasting
Mild Lower Limb Spasticity
Temperature Rhythm Phase-Advanced by 3-4 Hours
Melatonin Rhythm Phase-Advanced by 3 4 Hours
Mutation in the Homolog of the Drosophila Period 2 Gene
Mutation in the Casein Kinase 1 Delta Gene
Morning Larks
Short Circadian Rhythm Cycle
Early Sleep Offset - Almost 4 Hours Advanced Over Controls
Early Sleep Onset - Almost 4 Hours Advanced Over Controls
Congenital or Rapidly Progressive Hearing Loss
Normal Psychomotor Development in Most
Variable Age at Onset: Early Childhood to Adulthood
Amyotrophy of the Upper Limbs
Amyotrophy of the Lower Limbs
Mutation in the DTNA Gene (-0001)
Prominent Endomyocardial Trabeculations
Ovarioleukodystrophy in a Subset of Patients
Mutation in the Perforin 1 Gene
Mutation in the PIK3R2 Gene
S-Scoliosis of Thoracic Spine
Increased Risk of Medulloblastoma
Submucous Cleft Palate
Prominent Philtral Groove
Small Birth Length
Duplicated Kidneys
Small Cavum Septum
Wide Sylvian Fissures with Incomplete Opercularization
Enlarged White Matter
Mildly Thin Corpus Callosum
Asperger-Like Features
No Language
Many Cases Result from De Novo Mutations
Hypermotor Automatisms
Nocturnal Occurrence Usually during Light Sleep
Frontal Lobe Origin
Focal Partial Motor Seizures
Centrally Located Nuclei Seen on Muscle Biopsy
Myotonia Seen on EMG
Mutation in the Connexin 26 Gene
Eyelashes Sparse or Absent
Sparse or Absent Eyebrows
Hairs Can Be Painlessly Plucked with Little Force
Fine Scalp Hair
Thin, Flat Fingernail Plates
Mutation in the INVS Gene
Onset of Proteinuria in the Second to Fourth Decades
Mutation in the FN1 Gene
Recessive Inheritance Has Been Reported
Mutation in the FASL Gene
Mutation in the Fas Antigen Gene
Increased Risk of Malignant Lymphoma
Some Familial Occurrence most De Novo Aberrations
Cisterna Magna Enlarged
Restrictive Physiology
Low Incidence of Plexiform Neurofibromas
Unidentified Bright Structures on Brain MRI
Isolated Coloboma
Bilateral Microphthalmia
May Result in Sudden Death
Mutation in the SCN5A Gene
Junctional Escape - Ventricular Capture Bigeminy
Conduction System Defects
Systolic Function Reduced
Some Patients Respond to Acetazolamide
Mutation in the Solute Carrier Family 2 Member 1 Gene
End-Stage Renal Failure in First or Second Decade
Onset between First and Third Decade
Mutation in the NPHS2 Gene
Mesangial IgM Deposition
Possible X-Linked Dominant Inheritance
All Reported Patients Are Female
Malformed Thoracic Vertebrae
Low Nasal Bridge
Malformed Ribs
Gross Motor Delay
Dilatation of the 3rd Ventricle
White Matter Alterations
Mutation in the KRT1 Gene
No Large Keratohyalin Granules
No Aggregated Tonofilaments
No Abnormal Keratohyalin Granules
No Cytolysis
Thick, Red, Edematous Skin over Joints of Hands and Feet
Deep Fissures of Skin Creases
Well-Defined Erythematous Border
Mutation in the SCARF2 Gene
Intra- and Interfamilial Variability of Severity of Phenotype
Cataracts Possibly Subclinical
Ferritin Hyperglycosylation
Ferritin L Subunit Elevated
Transferrin Saturation Normal