Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
336
|
579
|
0.100 |
None |
1.000 |
3 |
1
|
2014 |
2017 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
26
|
35
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
128
|
164
|
0.100 |
None |
|
0 |
1
|
|
|
Short philtrum
|
phenotype |
|
Finding
|
24
|
25
|
0.100 |
None |
|
0 |
1
|
|
|
Failure to thrive in infancy
|
phenotype |
|
Finding
|
11
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Small midface
|
phenotype |
|
Finding
|
23
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
12
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Toenail dysplasia
|
phenotype |
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Profound global developmental delay
|
disease |
|
Disease or Syndrome
|
17
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Breathing dysregulation
|
phenotype |
|
Finding
|
6
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
21
|
22
|
0.100 |
None |
|
0 |
1
|
|
|
CATARACT 5, MULTIPLE TYPES
|
disease |
|
Disease or Syndrome
|
3
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
7
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Echogenic intracardiac focus
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
21
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
|
0 |
1
|
|
|
Long eyelashes
|
phenotype |
|
Finding
|
13
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Thick eyebrow
|
phenotype |
|
Finding
|
9
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Exaggerated cupid's bow
|
phenotype |
|
Finding
|
5
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
74
|
93
|
0.100 |
None |
|
0 |
1
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
92
|
0.100 |
None |
|
0 |
1
|
|
|
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
18
|
0.100 |
None |
|
0 |
1
|
|
|
Oropharyngeal Dysphagia
|
disease |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
7
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
190
|
292
|
0.100 |
None |
|
0 |
1
|
|
|
Single transverse palmar crease
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
14
|
14
|
0.100 |
None |
|
0 |
1
|
|
|