Abnormality of immune system physiology
|
phenotype |
|
Pathologic Function
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the ear cartilage
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Adducted thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
|
|
|
Profound global developmental delay
|
disease |
|
Disease or Syndrome
|
58
|
20
|
0.100 |
None |
|
0 |
|
|
|
Hiatal Hernia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Aqueductal Stenosis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
34
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Downturned corners of mouth
|
phenotype |
|
Anatomical Abnormality
|
122
|
14
|
0.100 |
None |
|
0 |
|
|
|
Short philtrum
|
phenotype |
|
Finding
|
182
|
25
|
0.100 |
None |
|
0 |
|
|
|
Periorbital fullness
|
phenotype |
|
Finding
|
57
|
4
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hemiplegia/hemiparesis
|
disease |
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Sleep disturbances
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
311
|
74
|
0.100 |
None |
|
0 |
|
|
|
Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
148
|
11
|
0.100 |
None |
|
0 |
|
|
|
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.100 |
None |
|
0 |
|
|
|