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22301 to 22400 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Short Sternum
Variable Age of Onset of Parkinsonism
Tau Immunreactivity
Alpha-Synuclein-Immunoreactive Lewy Neurites
Alpha Synuclein Immunreactive Lewy Bodies
Loss of Dopaminergic Neurons in the Substantia Nigra
L-Dopa-Responsive Parkinsonism
If Untreated, Death Usually Occurs in Infancy or Childhood
Villous Atrophy (Biopsy)
Additional Features Vary
Axonal Dystrophy
Iron Deposition in the Basal Ganglia
Contiguous Gene Duplication on Xq26.3
Mild Ventricular Hypertrophy
Height Velocity Increased
Tall Stature (+3-4 SD)
IGF1 Levels Elevated
Prominent Body Odor
Sweating at Early Age Increased
Respiratory Distress in Infancy
Excess Skin around the Neck
Mild Seizures
Mutation in the MID2 Gene
Mild, Non-Specific Facial Dysmorphism
Hyperkeratotic Nails
Acute and Chronic Dermal Inflammation
Flexion Contractures of Hands due to Severe Hyperkeratosis
Periorificial Hyperkeratotic Lesions
Severe Palmoplantar Keratosis
Hyperkeratotic Lesions of Posterior Neck
Absence of Premolar Teeth
Hyperkeratotic Plaque around Nostrils
Corneal Vascularization Extending to Central Cornea
Caused by Mutation in the High-Mobility Group Box 3 Gene
Abnormal Serum Transferrin Pattern
Females May be Unaffected or Mildly Affected
Caused by Mutation in the Histone Deacetylase 8 Gene
Nevus Flammeus
Variable Extraneurologic Features
Pigmentation Abnormalities
Linear, Plaque-Like Scales
Pointed Teeth
Iron Deposition
Long Birth Length
Scant Iron Deposition in the Brain
Spongy Gliosis
Irregular Spikes and Slow Waves
Psychomotor Arrest and Regression
Caused by Mutation in the Histone Deacetylase 6 Gene
Incomplete Penetrance in Females
Motor Symptoms Are Variable
Onset in Females Ranges from Third to Seventh Decade
Onset in Males in First to Third Decade
Caused by Mutation in the Ubiquilin 2 Gene
Axonal Loss and Gliosis in the Corticospinal Tracts
Neuronal Loss and Gliosis in the Cerebral Cortex
Mutation in the DLG3 Gene
Molar Hypoplasia
Upslanting Palpebral Fissures
Mutation in the GRIA3 Gene
Phenotype May Be Exacerbated by Maltreatment in Childhood
Mutation in the Monoamine Oxidase A Gene
MAOA Products Decreased
Urine Levels of MAO-A Substrates Increased
Monoamine Oxidase A Activity Decreased
Angry Outbursts
Auto- and Hetero-Aggressive Behavior
Mild to Severe Intellectual Disability
Age at Onset Can Range from Infancy to Childhood
Patient Cells Show Abnormal Mitochondrial Morphology
Mild Frontotemporal Atrophy Seen on MRI
Caused by Mutations in the BCL6 Corepressor Gene (BCOR)
Pentalogy of Fallot
Atresia of Ileum
Absent Kidneys
Hypoplastic or Absent Optic Chiasm
Skin Wrinkling Improves with Age
Mutation in the ATP6V0A2 Gene
Recurrent Lower Respiratory Infection
Frayed, Broken, and Shortened Elastic Fibers
Generalized Skin Wrinkling
Normal Isoelectric Focusing of Apolipoprotein CIII
'Dragonfly-Like' Pattern
Mutation in the Chromosome 5 Open Reading Frame 42 Gene
Notched Lip
Abnormal Hair Growth Pattern
Hypoplasia of Fifth Toes
Bilateral Cutaneous Syndactyly of 2nd-4th Toes
Bilateral Cutaneous Syndactyly of 3rd and 4th Fingers
Serrated Incisors
Pilar Dysplasia
Cutaneous Laxity
Hexadactyly
Bone Anomalies
Olfactory Bulb Agenesis
Coloboma of Optic Nerve
Lacrimal Duct Imperforation
Deafness due to Bilateral Cochlear Malformation
Fistula of Philtrum
Multiple Intestinal Atresia