31901 to 32000 most common queries

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

• Mutation in the CYLD Gene
• Multiple Trichoepitheliomas
• Multiple Cylindromas (Scalp, also Face, Trunk, Extremities)
• Parotid Gland Adenoma and Adenocarcinoma
• Normal Phalanges
• Normal Metatarsals
• Oval or Triangular-Shaped Tibia
• Proximal Widening of Ulna
• Mesomelic Limb Shortening
• Tall Narrow Ilia
• Widened Sacrosciatic Notch
• Hypoplastic Acetabular Roof
• Hypoplastic Glenoid
• Corneal Diameter Normal
• Mutation in the Solute Carrier Family 39 Member 13 Gene
• Velvety Smooth Skin
• Birthweight at or below 3rd Centile
• Prolyl 4-Hydroxylase Activity Normal
• Lysyl Hydroxylase Activity Normal
• Lysyl Pyridinoline/Hydroxylysyl Pyridinoline Ratio ≈ 1
• Widened Metaphyses (Metacarpus and Phalanges)
• Inability to Adduct Thumbs
• Finely Wrinkled Palms
• Widened Metaphyses - Elbows and Knees
• Mildly Flattened Proximal Femoral Epiphyses
• Mutation in the Heparin Cofactor II Gene
• Post-Angioplasty Coronary Artery Restenosis
• Mutation in the SLC29A3 Gene
• Bicommissural Aortic Valve
• Septal Thickening
• See Also Autosomal Dominant Form of Dopa-Responsive Dystonia
• Activity of Tyrosine Hydroxylase Decreased
• Cerebrospinal Fluid 5-HIAA Normal
• Cerebrospinal Fluid 3-Methoxy-4-Hydroxyphenylglycol Decreased
• Caused by Mutation in the Homeo Box A11 Gene
• Proximal Radio-Ulnar Synostosis
• Precipitating Factors Include Viral Illness and Pregnancy
• Episodic Pruritus
• Bile Acids Increased
• Progression to End Stage Liver Disease Does Not Occur
• Mild Fibrosis (Biopsy)
• Episodic Jaundice
• Triplication of the Alpha Synuclein Gene
• Anteriorly Positioned Anus
• Hypoplastic Scrotum
• Hypoplastic Perineum
• Possibly Favorable Response to Sulfonylurea
• Cystinuria Type 1
• Mitochondrial Respiratory Chain Complex Decreased
• Normal Mitochondrial Respiratory Chain Complex I-V
• Transient Neonatal Hypoglycemia
• Transient Neonatal Hypocalcemia (2p21del)
• Lactate Normal
• Lactic Acidemia
• Muscle Fibers Normal (HCS)
• Red Ragged Fibers (2p21del)
• Tented Upper Lip (HCS)
• Depressed Nasal Bridge - 2p21del
• Almond-Shaped Eyes (2p21del)
• Large Ears (2p21del)
• Postdates Delivery
• Fetal Movements Decreased (HCS and 2p21del)
• Severe Failure to Thrive (2p21del)
• Rapid Weight Gain in Late Childhood (HCS)
• Cystine Calculi in Bladder (2p21del)
• Hyperphagia in Late Childhood (HCS)
• Severe Developmental Delay (2p21del)
• Neonatal Seizures due to 2p21del
• Hypergonadotropic Hypogonadism (HCS)
• Mutation in the TNXB Gene
• Tenascin X Deficiency
• Some Patients May Have Isolated Myokymia
• Trinucleotide Repeat Expansion in the JPH3 Gene
• Profound Bilateral Sensorineural Hearing Loss
• Mutation in the Procollagen-Lysine-2-Oxoglutarate-5-Dioxygenase 3 Gene
• Blistering (Fingers, Toes, Pinnae)
• Birth Weight below 0.3 Percentile
• Birth Length below 0.3 Percentile
• Glucosyltransferase Activity Decreased
• Abnormal Urinary Collagen Derived Pyridinium Crosslinks
• Prominent Knees
• Small Odontoid
• Cerebral Arterial Hemorrhage
• Focal Dystonia Becomes Segmental or Generalized Dystonia
• Onset in Teenage Years
• Progressive Dystonia
• Onset of Seizures in Later Childhood
• Onset of Ataxia in Early Childhood
• Mutation in the Prickle-Like Protein 1 Gene
• Cognition is Spared
• Progressive Action Tremor
• Disdiadochokinesia
• Progressive Myoclonic Seizures
• Ataxia Cerebellar Limb and Gait
• Oculogyric Eye Movements
• Initial Development May Appear Normal
• Small Caudate
• Absence or Atrophy of the Putamen
• Diffuse Hypomyelination of the Brain White Matter
• Periventricular Calcifications