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39701 to 39800 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Dermal Contractures
Scarring (Late Complication)
Fistula Formation
Draining Sinuses - Late Complication
Preponderance of Affected Females to Males
Mutations in the T Box 5 Gene
Asymmetric Involvement
Radial-Ulnar Anomalies
Upper Extremity Phocomelia
Absent Pectoralis Major Muscle
Complete Penetrance
Normal Range of Expanded Repeats 9 29 Hd Range 36 121
Juvenile Rigid Early-Onset Form More Often Paternally Inherited
Prevalence Much Higher in Whites than Blacks
Neuronal Loss and Gliosis in Caudate and Putamen
Progressive Clinical Course with Onset in Childhood
Impairment of Dark Adaptation with Age
'Empty' Vitreous with Fibrillary Condensations
Peripheral Traction Retinal Detachment
Mild Myopia
Visual Field Defects (Middle Age)
Rarely Produces Clinical Jaundice
Common (up to 7% of the Population)
Hepatic UDP-Glucuronyl Transferase Activity Decreased
Mutations in the LDLR Gene
Planar Xanthomas
Onset of Disease in Late Childhood
Broad Cortex of Long Bones
Mild Sclerosis
Mild Vertebral Body Sclerosis
Decreased Gonial Angle - Endosteal Hyperostosis
Gonial Angle Increased
Loss of Diploe
Endosteal Sclerosis of Cranium
Mandibular Bone Density Increased
Calvarial Density Increased
Mandible Elongated
Resistance of Bone to Fractures
Flattened Forehead (Adolescence)
Mild Clavicular Sclerosis
Mild Rib Sclerosis
Weak Hoarse Cry
Abnormality of the Ureter
Posterior Labia Majora Splayed
Diastolic Blood Pressure Increased
Systolic Blood Pressure Elevated
Body Temperatures Elevated to 42°C
Precipitated by General Anesthesia
Mutations in the RYR1 Gene
Mutation in the Early Growth Response Protein 2 Gene
Mutation in the PRX Gene
Mutation in the MPZ Gene
Neonatal Severe Hyperparathyroidism in Homozygotes
Mutations in the Calcium Sensing Receptor Gene
Mild Frontal Bossing
Urine Phosphoethanolamine Increased
Deletion of Chromosome 18p11.2
Upturned Nostrils
Multiple Buccal Frenula
Simple Auricles
Pituitary Aplasia or Dysplasia
Aplasia or Dysplasia of Thyroid
Congenital Nasal Pyriform Aperture Stenosis
Midnasal Atresia or Stenosis
Single Median Maxillary Central Incisor
Torus Palatinus
Mild Thrombocytopenia (before Age 50)
Limited Movement of the Wrist
Pectoralis Major Hypoplasia
75% of Affected Individuals Are Female
Partial Deletion of Long Arm of Chromosome 11
Anteverted Nostril
Mutations in the TBX4 Gene
Short Fourth and Fifth Rays
Femoral Necks Elongated
Infra-Acetabula Axe-Cut Notches
Flat, Wide Proximal Femoral Epiphyses
Hypoplasia of the Lesser Trochanter
Left Side Involvement Associated with Serious Cardiac Defect
Right Side Affected Greater than Left Side
Mutations in the Emopamil Binding Protein Gene
Single Coronary Ostium
Ipsilateral Lung Hypoplasia
Unilateral Alopecia
Sharp Midline Demarcation
8-9-Cholestenol Elevated
8-Dehydrocholesterol Increased
Ipsilateral Epiphyseal Stippling
Knee Webbing
Unilateral Hypomelia (Digital Hypoplasia to Complete Limb Absence)
Unilateral Pelvic Hypoplasia
Ipsilateral Mandibular Hypoplasia
Mild Intrauterine Growth Retardation
Unilateral Clavicular, Scapular, Rib Hypoplasia
Ipsilateral Renal Agenesis
Ipsilateral Fallopian Tube Hypoplasia
Ipsilateral Ovarian Hypoplasia
Ipsilateral Cranial Nerve Hypoplasia
Ipsilateral Brain Hypoplasia
Ipsilateral Adrenal Gland Hypoplasia