Fasting hyperglycaemia
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
Nesidioblastosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
12
|
|
0.200 |
None |
|
0 |
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
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 |
|
|
|
Reduced pancreatic beta cells
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent metopic ridge
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Contractures of the joints of the lower limbs
|
phenotype |
|
Finding
|
12
|
3
|
0.100 |
None |
|
0 |
|
|
|
Fasting hyperinsulinemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
10
|
|
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 |
|
|
|
Tremor of hands
|
phenotype |
|
Sign or Symptom
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hypsarrhythmia
|
phenotype |
Nervous System Diseases
|
Finding
|
152
|
7
|
0.100 |
None |
|
0 |
|
|
|
Downturned corners of mouth
|
phenotype |
|
Anatomical Abnormality
|
122
|
14
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemic coma
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Retinopathy, CTCAE
|
phenotype |
|
Finding
|
108
|
|
0.100 |
None |
|
0 |
|
|
|
Beta-cell dysfunction
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Limb joint contracture
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Ketonuria
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Renal tubular disorder
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
64
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemic seizures
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.100 |
None |
|
0 |
|
|
|