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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