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22801 to 22900 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Mutation in the STAG3 Gene
Possible Increased Risk of Germ-Cell Tumors
Small or Undeveloped Breasts
Ovarian Cancer
Streak Ovaries on Ultrasound
Large Optic Discs
Bilateral Ureteral Aplasia
Bilateral Renal Aplasia
Frequently Fatal within the First Year of Life
C-Peptide Low or Undetectable
Anteriorly Placed Anus
Mutation in the EDN1 Gene
Dilation of Vein of Galen
Thickened Zygomatic Process of Right Temporal Bone
Submucosal Velar Cleft
Lingual Appendages
Ectopic Uvula
Bilateral Conductive Hearing Loss
Mutation in the KIAA0226 Gene
Age of Onset: 18-53 Years
Small Horn Cysts
Pronounced Hyperpigmentation at Tips of Rete Ridges
Digitiform Acanthosis of the Rete Ridges
Small Vessel Disease
Perivascular T Lymphocytes
Interstitial Neutrophils and Macrophages
Vasculitis in the Reticular Dermis
Lupus Anticoagulant
Acute-Phase Reactants during Fever
Ischemic Digital Necrosis
Neurologic Sequelae of Stroke
Brownish-Black Macules on Dorsa of Hands and Feet
Spotted and Reticulate Pigmentation of Flexural Areas of Skin
Mutation in the LZTR1 Gene
Prominent Subnasal Region
Progressive Optic Nerve Atrophy
Small, Atonic Pupils
Broad Dense Laterally Descending Eyebrows
Widened Lateral Ventricles
Speech Severely Limited or Absent
Postnatal Development of Hypertonic Extremities
Congenital Axial or Generalized Hypotonia
Mutation in the TRK Fused Gene
Mild Sensory Impairment
Normal Early Developmental Milestones
Age of Onset from 18 to 45 Years
No Vestibular Dysfunction
Post-Lingual Bilateral Progressive Hearing Loss
Variable Clinical Features
Two Peaks of Onset - Childhood and Adult
Mutation in the Chloride Channel 2 Gene
Chorioretinopathy
Myelin Microvacuolation
Diffuse Hyperintensities in the White Matter in Children
Low Apparent Diffusion Coefficients
Older Individuals Had Moderate to Severe Hearing Loss
Age of Onset 5 to 40 Years
Vertigo - Single Occurrence
Loss of Independent Ambulation in Second Decade
Gait Difficulties and Beginning of Cognitive Decline in First Decade
Onset in Early Childhood after Initially Normal Development
Mutation in the COASY Gene
Hypointensities in the Basal Ganglia (T2-Weighted)
Iron Accumulation in the Basal Ganglia Seen on MRI
Normal Initial Psychomotor Development
Reported in the Ohio Amish Anabaptist Community
Caused by Mutation in the Kaptin Gene (KPTN)
Macrocephaly (3-5 SD)
Mutation in the CSPP1 Gene
Single Nostril
Anophthalmia
Fused Eyes
Short, Horizontal Ribs
Hyperechogenic Kidneys
Elongated Superior Cerebellar Peduncles
Dysplastic Superior Cerebellar Vermis
Mild Bowing of Humeri and Femora
Irregular Sciatic Notches
Trident Acetabulum with Spurs
Dilated Calyces
Caused by Mutation in the Atlastin GTPase 3 Gene
Impaired Bone Healing
Chronic Ulceration due to Sensory Neuropathy
Bone Destruction
Anemia Does Not Respond to Alpha Interferon Treatment
Anemia Is Transfusion-Dependent
Erythroid Hyperplasia Seen on Bone Marrow Biopsy
Metatarsal Duplication
Hypoplasia of Terminal Phalanges
Abnormal Phalanges
Chronic Respiratory Distress
Trident Acetabulum
Early Cystic Dysplasia
Mild Structural Abnormalities
End Stage Renal Disease by Third Decade of Life
Mild Ventriculomegaly
Onset between 8 and 30 Years
Mutation in the Tenascin C Gene
Postlingual Progressive Sensorineural Hearing Loss
Sphincter Dysfunction