20901 to 21000 most common queries

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

• Joint Contractures (8%)
• Hyperextensible Joints (63%)
• Broad Nose (12%)
• Frontal Bossing (33%)
• Relative Macrocephaly (56%)
• Feeding Problems (43%)
• Overweight Later in Life
• Low Birth Weight
• Fine Motor or Coordination Problems (12%)
• Speech Delay (59%)
• Motor Development Delay
• Hypotonia (93%)
• Early Onset Puberty
• Mutation in the Homolog of the Drosophila Crumbs 2 Gene
• Dysinnervation of Various Cranial Nerves to Ocular Muscles
• Onset of Liver Involvement in Infancy
• Destruction of Bile Ducts
• Prominent Epithelial Luminal Budding
• Tubular Dilation
• Increased Echogenicity
• Onset of Malignancy Can Occur Throughout Life
• Onset of Thrombocytopenia in Early Childhood
• Mutation in the ETV Gene
• Susceptibility to Hematologic Malignancies Increased
• Mutation in the INS Gene
• Normal Response to Exogenously Administered Insulin
• Hyperproinsulinemia
• Variable Neuroradiologic Findings
• Microcephaly (up to 6 SD)
• Nodular Heterotopia of the Grey Matter
• Undersulcation of the Frontal Lobes
• Limb Hypertonia
• Premature Death May Occur
• Mutation in the WWOX Gene
• Lack of Visual Contact
• Disorganized Slow Background Activity
• Mitochondria with Abnormal Cristae Increased
• Proximal Muscle Weakness (Lower Limbs > Upper Limbs)
• Patients Need Support with Walking or Are Wheelchair Bound
• Mutation in the Ionotropic Glutamate Receptor Delta 2 Gene
• Tonic Upgaze
• Poor Overall Growth
• Mutation in the Homolog of the S Cerevisiae BRF1 Gene
• Prominent Alveolar Processes
• Bialveolar Protrusion
• Wave-Shaped Palpebral Fissures
• Microcephaly (2-3 SD)
• Pontine Hypoplasia
• Thin Corpus Callosum - Enlarged Ventricles
• Many Patients Require Cardiac Pacemakers
• Almost All Patients Require Total Parenteral Nutrition
• Onset of Symptoms in First or Second Decade of Life
• Mutation in the Shugoshin-Like Protein 1 Gene
• Mild Mitral Regurgitation
• Sclerotic Aortic Valve
• Left Atrial Dilation
• Junctional Escape Rhythm
• Hyperpigmented Skin Lesions
• C-Band Karyotype Shows 'Railroad Track' Appearance
• Fragmentation of Smooth Muscle Fiber Architecture
• Thinning of Smooth Muscle Layers
• Extensive Fibrosis in Smooth Muscle Layers
• Abundant T Cells in Smooth Muscle Layers
• Hypoplastic Ganglia in Enteric Nervous System
• Neurogenic and Myogenic Intestinal Pseudoobstruction
• Based on 3 Patients from 2 Families
• Mutation in the SPLRTN Gene
• Bilateral Palmar Simian Creases
• Urine Hyaluronic Acid Increased
• Structural Abnormalities Seen on Chromosome Analysis
• Mild Joint Restrictions of Fingers
• Bilateral Clinodactyly
• Sensitivity to Genotoxic Agents
• Early-Onset Hepatocellular Carcinoma
• Small Fronto-Temporal Diameter
• Mutation in the Glycogenin 1 Gene
• Inclusions Show Positive Immunostaining for SQSTM1 and Ubiquitin
• Myopathic Pattern Seen on EMG
• Distal Muscle Weakness
• Hyperintense Lesions in Thalamus, Basal Ganglia and Brain Stem (T2)
• Delayed Psychomotor Development - Variable
• Mutation in the Formin 2 Gene
• Age at Onset of Neurologic Features Variable
• Onset of Diabetes in Adolescence
• Demyelinating Sensorimotor Peripheral Neuropathy
• Mutation in the TUB Gene
• Peripheral Visual Field Severely Reduced
• Color Vision Disturbance in Protan, Deutan, and Tritan Axes
• Sparing of Macula
• White Dots Throughout Retina
• Fine Peripheral Pigmentary Mottling
• Widespread Atrophy of Retinal Pigment Epithelium
• Generalized Retinal Pallor
• Most Patients Become Wheelchair-Bound in Adolescence
• Onset between 6 and 14 Years
• Development of Pubic and Axillary Hair Delayed
• Lack of Breast Development
• No Visible Ovaries on Ultrasound
• Infantile Uterus on Ultrasound
• High Follicle-Stimulating Hormone Levels