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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