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31901 to 32000 most common queries

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

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 Increased Risk of Breast Cancer in Women