| C0003466 |
BXGD000193 |
Anus, Imperforate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0015826 |
BXGD001022 |
Fenestration (morphologic abnormality) |
|
| C0019569 |
BXGD001337 |
Hirschsprung Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0020555 |
BXGD001431 |
Hypertrichosis |
Skin and Connective Tissue Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0266617 |
BXGD005700 |
Congenital anomaly of face |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0796013 |
BXGD010778 |
Zimmerman Laband syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1142533 |
BXGD011758 |
Smooth philtrum |
|
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1839797 |
BXGD014409 |
Deep philtrum |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1845251 |
BXGD014734 |
Facial hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C3277019 |
BXGD018698 |
Horizontal eyebrow |
|
| C3277940 |
BXGD018725 |
Generalized hypertrichosis |
Skin and Connective Tissue Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4022738 |
BXGD020974 |
Neurodevelopmental delay |
|
| C4023698 |
BXGD021247 |
Everted upper lip vermilion |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|