Abnormality of iron homeostasis
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Wide nose
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Peripheral pulmonary artery stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Wooly hair
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
156
|
|
0.100 |
None |
|
0 |
|
|
|
Villous atrophy of intestine
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
96
|
8
|
0.100 |
None |
|
0 |
|
|
|
Brittle hair
|
disease |
|
Disease or Syndrome
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Clastothrix
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent infections
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
|
Finding
|
127
|
14
|
0.100 |
None |
|
0 |
|
|
|
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
|
0 |
|
|
|
Cafe-au-Lait Spots
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
74
|
32
|
0.100 |
None |
|
0 |
|
|
|
Hepatoblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
452
|
22
|
0.100 |
None |
|
0 |
|
|
|
Dry skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
159
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hemorrhagic diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of thymus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
MEMORY QUANTITATIVE TRAIT LOCUS
|
phenotype |
|
Finding
|
2
|
1
|
0.300 |
strong |
|
0 |
|
|
|
Hypopigmentation of hair
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Pili canaliculi
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|