48001 to 48100 most common queries

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

• Mild Asymmetric Cerebellar Hypoplasia
• Mild Hair Hypopigmentation
• Intrauterine Fractures of Long Bones and Clavicles
• Adult Onset of Gait Abnormalities
• Death Usually at Age <2 Years
• Chromosome 11q23.3 Deletion
• Hypertrichosis (Scalp, Arms, Legs, Back)
• Aplastic Hypoplastic Radius
• Underdeveloped Scrotal Folds
• Congenital Facial Anomaly
• Age at Onset Can Range from Infancy to Childhood
• Diabetic Peripheral Neuropathy in Long-Standing Cases
• 'Onion Bulb' Formations
• Dystrophic Changes (Later)
• Ophthalmic Test Finding
• Irregular Sclerotic Endplates (Adults)
• Polyclonal Hyperglobulinemia
• Cerebral Atrophy
• Ptosis (with Longer Disease Duration)
• Mild to Severe Skin Hypopigmentation
• 22q11.2 Deletion
• Absent Ulnae
• Onset in First 8 Weeks of Life
• Elevation of the Lessor Sphenoidal Wings
• Patient Cells Show Abnormal Mitochondrial Morphology
• Epileptiform Activity
• 87% of Patients Are Female
• Moderately Thickened Cortex
• Norepinephrine Decreased
• Disruption of the M-Line
• Nasal Mass due to Histiocytosis
• Bicarbonate Decreased
• Normal Odontoid Process
• Anterior Rounding of Lumbar Vertebrae
• Ophthalmoparesis (with Longer Disease Duration)
• Giant Granules in Muscle Cells
• Hernia in 22% of Adults
• Calcification of Cerebral Ventricles
• Mutation in the CRYAB Gene
• Mild Frontotemporal Atrophy Seen on MRI
• Anterior Pachygyria and Posterior Agyria
• X Linked Recessive Cytochrome B Negative CGD
• Aortic Aneurysms (Ascending Aorta or Aortic Arch)
• Renal Tubular Cell Atrophy with Corticomedullary Cysts
• Mental Rumination
• Orbital Mass due to Histiocytosis
• Disturbance of Growth
• Long-Tented Upper Lip
• Adult Female Height 152 - 167 cm
• High-Pitched, Coarse Voice
• Severe Acne
• Muscle Tone in Lower Limbs Increased
• Missing Digital Phalanges
• Caused by Mutations in the BCL6 Corepressor Gene (BCOR)
• Granular Deposits in the Sarcomeres
• Lissencephaly - Posterior to Anterior Gradient
• Ulceration and Amputation of the Toes due to Sensory Loss
• Deficiency or Absence of p22phox Protein
• Persecutory Delusion
• Interstitial Cell Infiltrate
• Histiocytic Deposits in Eyelids
• Retinal Damage
• Sternal Clefting
• Deafness Affects All Frequencies
• Flared, Irregular Rib Ends
• Deletion of 22q11.2 in 85-90% of DGS Patients
• Birth Length below 5th Percentile
• Low Set Nuchal Hair
• Mutation in the RNF216 Gene
• Learning Difficulties in Affected Females
• Double Outlet Right Ventricle
• Mild Pancreatic Hypoplasia
• Poor Pupillary Reflexes
• Traumatic Bladder Rupture
• Deficiency or Absence of P91-Phox Protein
• Ulceration and Amputation of the Fingers due to Sensory Loss
• T Cell Deficiency
• Mutation in the REEP1 Gene
• Symptoms Remain Focal
• Increased Hair on Arms and Legs
• Anorexia
• Primary or Secondary Amenorrhea
• EMG Shows Increased Insertion Activity and Fibrillation
• Long, Thin Ribs
• Cerebral Infarction Dandy Walker Malformation
• Normal Alleles Contain up to 30 Repeats
• No Development
• Atresia of Ileum
• Secondary Nocturnal Enuresis
• Autosomal Recessive Cytochrome B-Positive CGD Type 1
• Scoliosis (47% of Adults)
• Proximal Weakness of the Lower Extremities
• Age of Onset: 28-70 Years
• Total Cholesterol/HDL Ratio Increased
• Distal Weakness - Upper and Lower Limbs
• Abundant Curly Eyebrows
• Liver Disorder in Pregnancy
• Electroretinography Responses Nondetectable
• Pathogenic Alleles Contain 75 - 11 000 Repeats
• No Spontaneous Puberty