Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Torticollis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
55
|
10
|
0.100 |
None |
|
0 |
|
|
|
Increased serum ferritin
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Serum iron low (finding)
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|
HERMANSKY-PUDLAK SYNDROME 3
|
disease |
|
Disease or Syndrome
|
5
|
7
|
0.100 |
None |
|
0 |
3
|
|
|
Elevated hepatic iron concentration
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
CERULOPLASMIN BELFAST PHENOTYPE
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Memory Impairment, CTCAE 3.0
|
phenotype |
|
Finding
|
109
|
2
|
0.100 |
None |
|
0 |
|
|
|
Chorea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
168
|
20
|
0.100 |
None |
|
0 |
|
|
|
Decreased serum ceruloplasmin
|
phenotype |
|
Finding
|
12
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hermanski-Pudlak Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
70
|
59
|
0.100 |
None |
|
0 |
3
|
|
|
Memory Impairment, CTCAE 5.0
|
phenotype |
|
Finding
|
108
|
|
0.100 |
None |
|
0 |
|
|
|
Scanning speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.100 |
None |
|
0 |
|
|
|
Cogwheel Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Refractory anemias
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
340
|
11
|
0.100 |
None |
|
0 |
|
|
|
Iron-Refractory Iron Deficiency Anemia
|
disease |
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
36
|
0.100 |
None |
|
0 |
2
|
|
|
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
116
|
7
|
0.100 |
None |
|
0 |
|
|
|
Complement component 5 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
3
|
5
|
0.010 |
None |
1.000 |
1 |
|
1977 |
1977 |
Chronic active hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
122
|
34
|
0.310 |
None |
1.000 |
2 |
|
1980 |
2015 |
Menkes Kinky Hair Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
99
|
0.330 |
None |
1.000 |
3 |
|
1981 |
2012 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.010 |
None |
1.000 |
1 |
|
1981 |
1981 |
Aqueous Humor Disorders
|
disease |
Eye Diseases
|
Disease or Syndrome
|
85
|
1
|
0.020 |
None |
1.000 |
2 |
|
1984 |
2020 |