×
This website uses cookies to ensure you get the best experience on our website.
Privacy
Okay
Any Age
years old
years
Any Age
Newborn
Toddler
Child
Teenager
Adult
Senior
Any Sex
25801 to 25900 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Expression of CD44 and AQP1 on Erythrocytes Decreased
Circulating Orthochromatic Erythroblasts
Nucleated Peripheral Red Cells
Most Retain Independent Ambulation
Slow, Spastic Tongue Movements
Poor Oromandibular Coordination
Brisk Jaw Jerk
Hyporeflexia (Later Symptom)
Increased Tone in the Upper Limbs (Occurs Later)
Cerebellar Ataxia - Limb and Trunk
Prominent Crowded Teeth
Hypermetropia
Mild Cochlear Hearing Loss
Anterior Maxillary Protrusion
Mutation in the FOXP1 Gene
Described in Patients of Caucasus Jewish Origin
Normal Head Circumference at Birth
Onset at 4 to 9 Weeks of Age
Mutation in the MED17 Gene
Lack of Visual Tracking
Thin Brain Stem
Small Thalami
Severe Diffuse Cerebellar Atrophy
Severe Diffuse Cerebral Atrophy
Diffuse Slowing of Background
Multifocal Spike-and-Slow-Wave Activity
Truncal Arching
Severe Developmental Retardation
Low Hairline
Tetrasialo Transferrin Decreased
Pupillary Light Reflex Blunted
Lack of Blink Reflex
Delayed Pupillary Responses
High Forehead
Inverted Nipples
Onset in 2nd Decade of Life
Mutation in the CDHR1 Gene
Moth-Eaten Appearance of Fovea
Horizontal Oval-Shaped Fovea
Irregular Pigmentation of Fovea with Atrophy of RPE
Central and Peripheral Pigment Abnormalities
Severe Color Vision Defect
Caused by Mutation in the Lysyl-tRNA Synthetase Gene
Lower Limb Muscle Atrophy due to Peripheral Neuropathy
Contiguous Duplication of 2.2 Mb on Chromosome 17q23.1-q23.2
Tufted Distal Phalanx of First Toe
Hypoplastic Distal Tibial Epiphysis
Short Calcaneus
Short and Thickened First and-or Second Metatarsal
Lack of Normal Iliac Flare
Thickened Inferior Pubic Ramus
Onset of Edema in Childhood
Mutation in the PTPN14 Gene
Mutation in the WDR35 Gene
Tremor Is Aggravated by Low Glucose or Light
Jerk-Locked Premyoclonus Spikes
Giant Cortical Somatosensory Evoked Potentials (SEPs)
Electrophysiologic Studies Indicate Cortical Origin
Photoparoxysmal Response
Generalized and Focal Spike-and-Slow-Waves
Walking Impairment due to Myoclonus (Late Symptom)
Intrauterine Growth Retardation
Variable Age of Onset from 6 to 50 Years of Age
Autosomal Recessive Inheritance of Type 2N
Autosomal Dominant Inheritance in Most Types
There Are Several Subtypes
Mutation in the Von Willebrand Factor Gene
Patients with Type 2B Develop Thrombocytopenia
Bleeding Prolonged due to a Qualitative Defect in the VWF Protein
Factor VIII Decreased in Patients with Type 2N
Thick Hair
Some Fragmented or Disrupted Golgi
Impaired O-Glycosylation
N-Glycosylation Impaired
Galactosylation Defects
Sialylation Defects
Serum Transferrin Isoelectric Focusing Shows Type 2 Pattern
Dysmorphic Facies
Recurrent Gastrointestinal Infections
Thin Corpus Callosum
Moderately to Severely Delayed Psychomotor Development
Progressive Microcephaly
Periventricular White Matter Abnormalities
Corpus Callosum Abnormalities
Caused by Mutation in the DEAD-H Box 11 Gene
Jugular Hypoplasia
Hyperpigmented Patches
Hypopigmented Patches
Coloboma of the Right Optic Disc
Bilateral Epicanthal Folds
Bilateral Hypoplastic Cochlea
Caused by Mutation in the Anoctamin 5 Gene
Muscle Biopsy Shows Disruption of the Sarcolemmal Membrane
Chelation Therapy Can Result in Clinical Improvement
Mutation in the SLC30A10 Gene
Erythropoietin Increased
Manganese Increased
Sensorimotor Neuropathy
Lesions in the Anterior Pituitary
Hyperintensities in the Basal Ganglia (MRI)