24101 to 24200 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Usually Lethal in the Neonatal Period
• Mutation in the PRRX1 Gene
• Blind-Ended Trachea
• Trachea-Oropharynx Connection Agenesis
• Hypoplasia of Oropharynx
• Urine Glycosphingolipids Increased (e.g., Globotriaosylceramide)
• Most Cases Occur De Novo
• Symptoms Are Aggravated by Febrile Illness
• Mutation in the FKTN Gene
• Patients Achieve Independent Ambulation but May Lose It
• Mutation in the Gamma Aminobutyric Acid A Receptor, Gamma 2 Gene
• Progressive, Severe Contractures
• Onset between Age 2 and 15 Years
• Caused by Mutation in the Aspartyl-tRNA Synthetase 2 Gene
• Decreased Proprioception and Vibration Sense
• Lesions Are Symmetrical
• Small Slender Palms
• Sterotypical Movements
• Caused by Interstitial Duplication - 3.7 Mb of 17p11.2
• Structural Cardiovascular Abnormalities
• Long Nasal Tip
• Death in Early Infancy
• Mutation in the TMEM15 Gene
• Profound Muscular Hypotonia
• Hypoplasia of the Distal Phalanx of the 5th Toe
• Hypoplasia of the Thenar and Hypothenar Eminences
• Clinodactyly of the 1st Finger
• Wide Space between the Thumbs and the 2nd Fingers
• Short Proximal Arms
• Hypoplastic Pelvic Girdle
• Coronal Cleft in C2-C5
• Hypoplastic Malar Area
• Perinatal Lethality
• Redundant Connective Tissue
• Abnormally Folded Ears
• Bowel Hypoplasia
• Periportal and Perivenular Fibrosis
• Perivascular Nerve Fiber Proliferation
• Placental Weight Increased
• Swollen, Globular Body
• Mutation in the KIF7 Gene
• Deep Set Ears
• Mutation in the VPS13A Gene
• Intermittent Neck Flexion
• De Novo Deletions in 8% of Patients
• Due to Hemizygous Deletion of 4p16.3
• Hemizygous Deletion at 4P16 3
• Marked Intrauterine Growth Retardation
• Tethered Cord
• White Matter Hyperintensities on T2 Imaging
• Mild Premature Aging
• Altered Visual Acuity
• Voiding Frequency/Urgency
• Microangiopathic Telangiectasia
• Death Occurs 5 to 10 Years after Onset
• Caused by Mutation in the 3-Prime Repair Exonuclease 1 Gene
• Subcortical Lesions with Edema
• Periventricular White Matter Lesions
• Pathogenic Alleles Have 19 to 33 Repeats
• 4-18 Repeats in Normal Alleles
• Selective Loss of Cerebellar Purkinje Cells
• Mutation in the Erythrocytic Protein 4.2 Gene
• Mutation in the Spectrin Beta 1 Gene
• Caused by Mutation in the Ankyrin 1 Gene
• Caused by Mutation in the Spastin Gene
• Contiguous Gene Deletion Syndrome Caused by Deletion of 17p11.2
• Mutation in the Retinoic Acid Induced Gene 1
• Interstitial Deletion of 17p11.2
• Decremental CMAP Response to Repetitive Nerve Stimulation
• Distal Muscle Weakness May Also Occur
• De Novo Mutation Resulting in Haploinsufficiency of EFTUD2
• Hypoplasia of the Upper Part of the Helix
• Decreased Activity of Mitochondrial Complexes I, III, and IV
• Mutation in the KIF1A Gene
• Absence of Eosinophilia in Other Intestinal Segments
• Thickening of Basal Epithelial Layer and Elongation of Papillae
• Food Impaction
• Mean Age at Onset 30.7 Years
• Caused by Mutation in the Prodynorphin Gene
• Mixed Axonal Polyneuropathy
• Thinning of the Cerebellopontine Tracts
• Neuronal Loss in the Inferior Olives
• Neuronal Loss in the Dentate Nuclei
• Neuronal Loss in the Purkinje Cell Layer of the Cerebellar Vermis
• Cortical and Subcortical Atrophy
• Mild Cognitive Decline
• Optic Nerve Hypoplasia or Agenesis
• Unilateral or Bilateral Anophthalmia
• Unilateral or Bilateral Microphthalmia
• Pituitary Hormone Deficiencies
• Subtle Facial Phenotype Compared to other Types of HPE
• High Occurrence of De Novo Mutations
• Mutation in the ZIC2 Gene
• Short Nose with Anteverted Nares (73%)
• Flat Nasal Bridge (33%)
• Upslanting Palpebral Fissures (97%)
• Large Ears (37%)
• Broad, Deep Philtrum (43%)
• Structural Inner Ear Abnormalities
• Vestibular Anomalies