Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypermelanotic macule
|
phenotype |
|
Finding
|
59
|
2
|
0.100 |
None |
|
0 |
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Hypoplastic finger
|
phenotype |
|
Finding
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Short metatarsal
|
phenotype |
|
Finding
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyperphagia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyperparathyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
111
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Short 4th metacarpal
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Poor suck
|
phenotype |
|
Finding
|
103
|
31
|
0.100 |
None |
|
0 |
1
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Intrauterine retardation
|
phenotype |
|
Pathologic Function
|
41
|
56
|
0.100 |
None |
|
0 |
1
|
|
|
Basal ganglia calcification
|
phenotype |
|
Pathologic Function
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Pseudohypoaldosteronism, Type I, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
20
|
0.300 |
None |
|
0 |
|
|
|
Pseudohypoaldosteronism, Type I, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
10
|
6
|
0.300 |
None |
|
0 |
|
|
|
Pseudohypoaldosteronism, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
27
|
42
|
0.300 |
None |
|
0 |
|
|
|
Skin Papule
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
74
|
|
0.100 |
None |
|
0 |
|
|
|
Short toe
|
phenotype |
|
Finding
|
56
|
3
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Short metacarpal
|
phenotype |
|
Finding
|
66
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Hyperostosis Frontalis Interna
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Sex Cord-Stromal Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
28
|
3
|
0.400 |
None |
|
0 |
2
|
|
|
Subcutaneous nodule
|
phenotype |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Pathologic Function
|
80
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|