Phenylketonuria II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
16
|
0.300 |
None |
|
0 |
|
|
|
Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
59
|
|
0.100 |
None |
|
0 |
|
|
|
blue iris (physical finding)
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hemiplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
|
|
|
Bifid distal phalanx of the thumb
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.100 |
None |
|
0 |
|
|
|
Bilateral ptosis
|
phenotype |
Eye Diseases
|
Finding
|
50
|
14
|
0.100 |
None |
|
0 |
|
|
|
Motor deterioration
|
phenotype |
Mental Disorders
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Self-Injurious Behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
91
|
9
|
0.100 |
None |
|
0 |
|
|
|
Memory Impairment, CTCAE 3.0
|
phenotype |
|
Finding
|
109
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hyperphenylalaninemia, Non-Pku Mild
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Esophageal Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
59
|
6
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
|
|
|
Obsessive compulsive behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
94
|
16
|
0.100 |
None |
|
0 |
|
|
|
Phenylpyruvic acidemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypopigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
23
|
1
|
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 |
|
|
|
Congenital central hypoventilation
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Hypopigmentation of hair
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|