Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Isolated polycystic liver disease
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
7
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hydrops Fetalis, Non-Immune
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
22
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Intestinal Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
209
|
13
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Skin Manifestations
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
50
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome; Congenital Abnormality
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Congenital disorder of glycosylation type 1s
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
102
|
38
|
0.050 |
None |
1.000 |
5 |
|
2012 |
2020 |
Hypoalbuminemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
107
|
9
|
0.100 |
None |
|
0 |
|
|
|
Reduced fetal movement
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
169
|
17
|
0.100 |
None |
|
0 |
|
|
|
Partial thromboplastin time increased (finding)
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.100 |
None |
|
0 |
|
|
|
Liver cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
26
|
5
|
0.100 |
None |
|
0 |
|
|
|
Simple renal cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
100
|
2
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
1
|
|
|
Motor retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Finding
|
98
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
|
0 |
1
|
|
|
Aplasia/hypoplasia of the proximal phalanx of the 5th toe
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Renal cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
170
|
17
|
0.100 |
None |
|
0 |
|
|
|
Abnormal isoelectric focusing of serum transferrin
|
phenotype |
|
Finding
|
15
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
1
|
|
|