×
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
37001 to 37100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Delayed Acquisition of Motor Skills
Progressive Retinitis Pigmentosa
Moderate to Severe Congenital Sensorineural Hearing Loss
Early Age of Onset
Immunoreactive Neuronal Alpha Synuclein and Glial Inclusions
Diffuse Lewy Body Pathology
Mutation in the Lamin AC Gene
Kyphoscoliosis May Be Present
Age at Onset: 28-42 Years
Mutation in the DSPP Gene
Progressive High Frequency Hearing Loss
Asymmetric Cranial Vault
Proboscis-Like Nares
Midline Nasal Appendage
Punctate, Yellow-White Sub-RPE Lesions and Subnormal Focal ERG
Retinopathy May Resemble Retinitis Pigmentosa
Punctate Yellow-White Sub-Retinal Pigment Epithelium Lesions
Night Blindness Beginning in the 6th Decade
Cutis Verticis Gyrata
Onset at Age 6-10 Years
Diffuse Hyporeflexia
Pyramidal Tract Involvement
Brisk Knee Reflex (Early-On)
Extensor Plantar Responses (Early On)
High-Stepping Gait
Seizures Easily Controlled by Medications
Dyskinesia in Homozygotes Reported in One Case
Average Onset 6 Months
Particulate Debris in Vitreous
White Painless Eye
Symptoms Often Improve Gradually with Age
Type 2 Fiber Atrophy (Muscle Biopsy)
Slow Recovery
Miniature Endplate Potentials Decreased
Generalized Hypotonia due to Neuromuscular Junction Defect
Elevated Bilirubin (Bilirubinemia)
Elevated Plasma Galactose (Galactosemia)
Plasma Methionine Elevated - Methioninemia
Citrulline Elevated (Citrullinemia)
Allelic Disorder to Autosomal Recessive Inclusion Body Myopathy Type 2
Wheelchair Bound, in Average 12 Years after Onset
Mutation in the GNE Gene
Inflammatory Cells Absent
Congophilic Amyloid Material
Deposits Immunoreactive to Beta-Amyloid Protein
Tubulofilamentous Nuclear or Cytoplasmic Inclusions
Rimmed Vacuoles (Biopsy)
Quadriceps Muscle Spared
Tibialis Anterior Muscle Affected
Hamstring Muscle Affected
Fishy Body Odor
Caused by Mutation in the Dimethylglycine Dehydrogenase Gene
Dimethylglycine Dehydrogenase Deficiency
Urine N,N-Dimethylglycine Elevated
N,N-Dimethylglycine Increased
Mutation in the AMT Gene
Mutation in the Glycine Dehydrogenase Gene
CSF/Plasma Glycine Ratio Elevated
Hepatic Glycine Cleavage Defect
Expressive Speech Deficit
Burst Suppression Pattern on Neonatal EEG
Hyporeflexia to Hyperreflexia
Absent Corpus Callosum
Mutation in the PTEN-Induced Putative Kinase 1 Gene
Dementia (5%)
Autonomic Instability
Sleep Benefit
Postural Instability (63%)
Dystonia at Onset
Asymmetry at Onset
High Frequency in the French Canadian Population
Caused by Mutations in the Senataxin Gene (SETX)
Absence of Sensory Action Potentials
Distal Vibration Sensation Impaired
Progressive Limb Ataxia
Dermatitis Acidemica
Carnitine Decreased
3-Methylcitric Acid Elevated
3-Hydroxypropionic Acid Elevated
Propionate Elevated
Trunk Hypotonia
Urine Oligosaccharides Abnormal
Glucosidase I Deficiency in Liver and Fibroblasts
Long Lashes
Prominent Occiput
Wet, Gurgling, Hoarse Voice
Hypophonic Breathy Voice
Vocal Cord Weakness
Onset of Weakness in Hands and Feet
Earlier Onset Associated with Increased Severity
Sloping Shoulders due to Muscle Atrophy
Intercostal Muscle Involvement
Manual Dexterity Impaired
Wasting of Hand Muscles is Often an Early Symptom
Mean Age of Onset 22 Years
Percussion-Induced Rapid Rolling Muscle Contractions
Muscle Activity is Electrically Silent on EMG
Mental Development Worsens after Onset of Seizures
20-30 Degree Extension Deficit of Knees and Elbows
Narrowing of the Frontal Part of the Skull