Abdomen distended
|
phenotype |
Digestive System Diseases
|
Finding
|
103
|
6
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Endemic Cretinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
26
|
|
0.200 |
None |
|
0 |
|
|
|
Increased T3/T4 ratio
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
1
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.100 |
None |
|
0 |
|
|
|
Large fontanelle
|
phenotype |
|
Finding
|
77
|
3
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Hypersomnia
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
70
|
7
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|
Icterus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
241
|
17
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Inherited Thyroxine-Binding Globulin Deficiency
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2
|
2
|
0.010 |
None |
1.000 |
1 |
|
1983 |
1983 |
Thyroxine-Binding Globulin Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
3
|
2
|
0.010 |
None |
1.000 |
1 |
|
1983 |
1983 |
Thyroglobulin Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
orbit (eye disorders)
|
group |
Eye Diseases
|
Disease or Syndrome
|
64
|
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Langer-Giedion Syndrome
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
3
|
0.020 |
None |
1.000 |
2 |
|
1986 |
1991 |
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Thromboangiitis Obliterans
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
127
|
16
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Benign Neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
371
|
7
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
162
|
21
|
0.030 |
None |
1.000 |
3 |
|
1995 |
1996 |