21301 to 21400 most common queries

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

• Progression of Phenotype with Age
• Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium
• Vascular Tortuosity Increased
• Prominent Scleral Vessels
• Thickened Sclera
• Bilateral Hyperopia
• Bilateral Axial Length Decreased
• Mutation in the PRKDC Gene
• Postaxial Polysyndactyly
• Overlapping Fingers
• Block of B Cell Differentiation
• Peripheral T Cells Decreased
• Wide Nasal Bridge
• Deep Set Eyes
• Micropenis
• Hypomyelination
• Small Hippocampi
• Profound Psychomotor Developmental Delay
• Caused by Mutation in the Tenascin Xb Gene
• Male-Pattern Baldness
• Slightly Elevated 24 Hour Mean Plasma Cortisol
• Caused by Mutation in the Laminin Alpha 1 Gene
• Macular Heterotopia
• Short Pons
• Elevation and Splaying of the Superior Cerebellar Peduncles
• Severe Respiratory Insufficiency
• Centralized Nuclei Increased
• Myopathic Features Seen on Biopsy
• Severe Neonatal Hypotonia
• Mutation in the ELOVL Fatty Acid Elongase 5 Gene
• Adrenocorticotropic Hormone Low
• Most Cases due to De Novo Mutations
• Interstitial Pneumonia
• Altered T-Cell Regulation
• Autoantibodies
• Increased Susceptibility to T Cell LGL Leukemia
• Mutation in the C2CD3 Gene
• Broad Duplicated Halluces
• Buccal Frenulae
• Microcephaly (5 SD)
• Incomplete Myelination
• Hyperlipidemia May be Partially Responsive to Fat Restricted Diet
• Facial Xanthomatous Eruptions
• Plasma Triglyceride Concentration High-Normal in Heterozygotes
• Lipoprotein Lipase Decreased
• Chylomicronemia - Refractory Fasting
• Relapsing Pancreatitis
• Low Body Weight < 10th Centile
• Onset before 10 Years of Age in All Patients
• Mutation in the SLC39A5 Gene
• Focal Atrophy of Choroid
• Axial Length Increased
• Mean Age at Onset: 48 Years (Range: 38-64 Years)
• Altered Horizontal Eye Movements
• Irregular Pursuit
• Inaccurate Saccades
• Abnormal Vertical Eye Movements
• Mutation in the METTL23 Gene
• Short, Upturned Nose
• Flat Occiput
• Delineation of the Basal Ganglia Decreased
• Mild to Severe Cognitive Impairment
• Caused by Mutation in the Cyclin D2 Gene
• Head Circumference Enlarged
• Vascular Malformations
• Connective Tissue Dysplasia
• Vasculitic Symptoms Associated with Cold Exposure
• Caused by Mutation in the Transmembrane Protein 173 Gene
• Vasculitis - Particularly of the Capillaries
• Macrophage Alveolitis
• Nailfold Capillary Tortuosity
• Eschar Formation
• Necrosis Leading to Amputation
• Acral Violaceous Plaques and Nodules
• Amputation Resulting from Acral Necrosis
• Transient Autoantibodies
• Postretinal Blindness
• Well Grooved Philtrum
• Postnatal Microcephaly
• Poor Linear Growth
• Frontotemporal Hypoplasia
• Hypoplastic Anterior Pituitary Gland
• Absent Posterior Pituitary Bright Spot
• Abnormal Hypothalamo-Pituitary Axis
• Cortisol Insufficiency
• Adrenocorticotropin Deficiency
• Hypothalamic Insufficiency
• Only Mild Lipodystrophic Appearance
• Death Usually Occurs in Childhood
• Onset of Encephalopathy between Ages 2 and 3 Years
• Caused by Mutation in the Seipin Gene
• Mild Loss of Subcutaneous and Visceral Adipose Tissue
• Lipoatrophic Appearance
• Gain-of-Function Mutation in the NPR2 Gene
• Echocardiogram and Ophthalmologic Examination Normal
• Mutation in the Natriuretic Peptide Receptor 2 Gene
• Bone-Specific Alkaline Phosphatase Increased
• Urine Cross-Linked N-Telopetide of Type 1 Collagen Increased
• Cross-Linked C-Terminal Telopeptide of Type 1 Collagen Increased
• Long Metatarsals