C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
1825 |
553 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
1127 |
292 |
C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
1010 |
0 |
C0239234 |
Low set ears
|
disease |
|
Congenital Abnormality
|
|
Abnormality of the ear
|
489 |
64 |
C1849367 |
Nasal bridge wide
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
429 |
29 |
C1836542 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
426 |
39 |
C0678230 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
417 |
30 |
C1840077 |
Anteverted nostril
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
407 |
35 |
C0423110 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
391 |
49 |
C0521525 |
Short neck
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
288 |
29 |
C1850049 |
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
284 |
39 |
C1854114 |
Short nose
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
265 |
23 |
C1853242 |
Midface retrusion
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
228 |
0 |
C1857486 |
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
|
Abnormality of the ear
|
223 |
19 |
C1854113 |
Prominent nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
180 |
8 |
C1845977 |
X- linked recessive
|
phenotype |
|
Finding
|
|
|
172 |
1 |
C0409348 |
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
|
168 |
7 |
C1837260 |
Prominent forehead
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
159 |
25 |
C0544886 |
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
|
|
151 |
0 |
C4551485 |
Clinodactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
148 |
18 |
C1858430 |
Death in infancy
|
phenotype |
|
Finding
|
|
|
146 |
7 |
C1849089 |
Broad forehead
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
133 |
13 |
C1837404 |
High, narrow palate
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
129 |
21 |
C1848673 |
Hypoplastic feet
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
129 |
21 |
C1866195 |
Downturned corners of mouth
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of head or neck
|
122 |
14 |