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29201 to 29300 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Comedo-Like Remnant Hair Follicles on Skin Biopsy
Tapered Distal End
Trichorrhexis Nodora-Like Anomaly
Sparse to No Body Hair
Sparse to No Axillary Hair
Sparse to No Eyebrows
Sparse Scalp Hair from Birth
Mutation in the CEP152 Gene
Microcephaly - 5 to 7 SD below the Mean
Brain Size Reduced
Jerky Movements in Infancy
Mild Psychomotor Delay
Variable Phenotype Particularly with Regard to Cortical Malformations
Microcephaly (4-7 SD)
Afebrile Seizures Later in Childhood
Persistence of Febrile Seizures Beyond Age 6 Years
Myotonic Seizures
Subcortical Nodular Grey Matter Heterotopia
Obstruction of the Foramen of Monro
Focal Cerebellar Dysplasia
Cerebellar Hypoplasia due to Enlarged Foramen Magnum
Brain MRI Shows Hypoplasia of the Corpus Callosum
Hypermobile Fingers (Beak of Swan)
Recurrent Infections at Variable Sites
Hypoplasia of Eyebrow
Phosphate Normal or Increased
Calcium Low or Normal
Multiple Hormone Resistance
Mutation in the DNAJB6 Gene
Fatty Replacement
Inclusions Are TDP43 Immunoreactive
DNAJB6-Immunoreactive Inclusions
Tubulofilamentous Inclusions
Myofibrillar Disintegration
Dystrophic Changes
Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
Myopathic Changes Seen on EMG
China
Frequency of Homozygotes in Korea: 1 in 50,000
Frequency of SLC25A13 Homozygotes in Japan: 1 in 19,000
Frequency in Individuals of Asian Descent Increased
Favoring of Fat and Protein
Natural Aversion to Carbohydrates
Mean Age at Diagnosis: 40 Years
Secondary Decreased Activity of Argininosuccinate Synthetase
Pancreatic Secretory Trypsin Inhibitor Increased
Hepatocyte Ballooning
Sudden Onset of Neuropsychiatric Symptoms
Marked Cachexia
Decreased Activities of Complexes I, III and IV - Variable
Activity of Cytochrome C Oxidase Decreased (Muscle Biopsy)
Distal Limb Muscle Atrophy
Incomplete Penetrance with 45 to 51 Repeats
Pathogenic Alleles Contain 52 to 86 Repeats
Normal Alleles Contain up to 44 Repeats
Trinucleotide Repeat Expansion in the MJD Gene
Mutation in the NKX2-5 Gene
Mitral Valve Double Orifice
Atrioventricular Conduction Defects
Atrial Septal Defect - Cribriform Type
Pupillary Constriction to Light Impaired
Mutation in the Muscarinic Cholinergic Receptor 3 Gene
Non-Clonal Myeloproliferation
Inflammatory Markers Elevated
Intrauterine Fractures of Long Bones and Clavicles
Polyclonal Hyperglobulinemia
Nasal Mass due to Histiocytosis
Orbital Mass due to Histiocytosis
Histiocytic Deposits in Eyelids
Mild Pancreatic Hypoplasia
Pancreatomegaly
Normal Alleles Contain up to 30 Repeats
Mutation in the CHKB Gene
Dilated Cardiomyopathy (in about 50%)
Mitochondria Are Placed at the Periphery of Muscle Fibers
Muscle Biopsy Shows Necrotic and Regenerating Fibers
Some Patients Never Achieve Independent Ambulation
Dysmorphic Facial Features May not be Present
Mutation in the 24-Dehydrocholesterol Reductase Gene
Gyral Pattern Effaced
White Matter Decreased
Fat Pads Become Less Prominent with Time
Fetal Toe Pads
Deep Grooves on Soles with Pillowing in between
Fetal Finger Pads
Deep Creases on Palms with Pillowing in Between
Fat Pads Anterior to Calcaneus
Progressive Scoliosis
Central Palatal Ridge
Long Upper Lip with Thin Vermilion Border
Hypertelorism or Telecanthus
Short and Narrow Palpebral Fissures
Broad Flat Philtrum
High Frontal Hairline
Less than Fiftieth Centile
<10th Percentile
Medial Flexion of the Hands
Short, Curved Forearms
Dilated Bowman Capsules
Germline or Somatic Mutations May Cause the Disorder