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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