30301 to 30400 most common queries

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

• Abnormal Scapula
• Severe Developmental Delay in Survivors
• Thin Dry Hair
• Reduced Subcutaneous Adipose Tissue
• Abnormal Myelination in Sural Nerve Biopsy
• At Least 2 Complementation Groups
• Thymic Hormone Decreased
• Ivory Epiphyses of the Fingers
• Mild to Moderate Joint Limitation
• Small Squared-Off Pelvis
• Vertebral Body Abnormalities
• Severe Postnatal Growth Retardation
• Mild Shortening of Metacarpals
• Mild Lumbar Lordosis
• Short 2nd and 4th Digits
• Dark Brown Discoloration
• Progressive Central Vision Loss
• Maculopathy
• Distal Syndactyly
• Ring-Like Finger Constrictions
• Orbital Clefts
• Abdominoschisis
• Poor Suck in Infancy
• Associated with Advanced Paternal Age
• Thin Anterior Head Hair
• Papillomas in Perioral, Nasal and Anal Regions
• Dark Skin Pigmentation
• Cutis Laxa (Especially Hands and Feet)
• Wide Distal Phalanges
• Loose, Redundant Neck Skin
• Thickened Lobes
• Postnatal Onset Growth Deficiency
• Short Broad Distal Phalanges
• Rhizomelic Limb Shortening (Especially Arms)
• Sagittal Suture Craniosynostosis
• Dental Fusion
• Malformation of the Hepatic Ductal Plate
• Brachydactyly - 2nd - 5th Toes
• Key Hole-Like Iris-Retina-Choroid Coloboma
• Nasal Obstruction Leading to Mouth Breathing
• Patchy Sclerosis of Finger Phalanges
• Humeri Radii Ulnae Bowing
• Club-Shaped Distal Femur
• Dense Diaphyses
• Obliteration of Paranasal Sinuses and Mastoid
• Alveolar Process - Broad Alveolar Margins
• Mild Anterior Rib Widening
• Short, Curved Ulna
• Absent or Hypoplastic Radii
• Craniosynostosis (Coronal, Metopic, Lambdoidal)
• Low-Set Posteriorly Rotated Ears
• Hypoplasia of Palmar Creases
• Craniosynostosis (Sagittal Metopic Lambdoid)
• Neutral Palpebral Fissures
• Long, Hypoplastic Philtrum
• Absent REM Sleep
• No Response to Phenobarbital
• Death in Infancy Secondary to Kernicterus
• Liver Histology Normal
• Absence of Hepatic UDP-Glucuronyltransferase
• Midline Nasal Cleavage
• Broad, Low Nasal Bridge
• Hypoplastic, Notched Nares
• Absent or Malformed Lacrimal Ducts
• Middle Ear Malformations
• Umbilical Anomaly
• Renal Agenesis or Hypoplasia
• Majority of Patients Are Responsive to Pyridoxine
• Mutations in the CTH Gene
• Hepatic Gamma Cystathionase Deficiency
• Delta-F508 Present in 70% of Alleles
• Pulmonary Blebs
• Chronic Bronchopulmonary Infection
• High Newborn Levels of Immunoreactive Trypsinogen
• Abnormal Nasal Potential Differences
• Rarely Hyponatremic Dehydration
• Sweat Sodium and Chloride High
• Meconium Ileus in Neonates (10-15%)
• Pancreatic Insufficiency in 80%
• Adult Non-Nephropathic Cystinosis
• Juvenile or Adolescent Nephropathic
• 1 - Infantile Nephropathic Cystinosis
• Mutations in the Cystinosin Gene
• No Retinopathy
• No Renal Disease
• Recurrent Episodes of Dehydration
• Presentation in First Year of Life
• Mutation in the CTNS Gene
• Light Skin Pigmentation (Compared with Unaffected Sibs)
• Short Stature in First Year of Life
• Neurologic Deterioration in Long-Term Survivors
• Onset Usually at Age 12-15 Years
• Mutations in the Cystinosis Gene
• White Cell Cystine Increased
• Subset of Patients Have French Canadian Leigh Syndrome (220111)
• Subset of Patients Have Leigh Syndrome
• Possibly Death in Infancy
• Symptom Onset Ranges from Infancy to Adulthood
• Marked Clinical Heterogeneity
• Caused by Mutation in the Mitochondrial tRNA Serine 1 Gene