Clinodactyly
|
disease |
|
Congenital Abnormality
|
138
|
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
381
|
|
0.100 |
None |
|
0 |
|
|
|
Short nose
|
phenotype |
|
Finding
|
265
|
|
0.100 |
None |
|
0 |
|
|
|
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
154
|
|
0.100 |
None |
|
0 |
|
|
|
Large for gestational age
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
43
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal oral glucose tolerance
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
|
0.100 |
None |
|
0 |
|
|
|
Radial deviation of finger
|
phenotype |
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
551
|
|
0.100 |
None |
|
0 |
|
|
|
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Microalbuminuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Hypsarrhythmia
|
phenotype |
Nervous System Diseases
|
Finding
|
146
|
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1458
|
|
0.100 |
None |
|
0 |
|
|
|
Hypovolemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
363
|
|
0.100 |
None |
|
0 |
|
|
|
Overweight
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced pancreatic beta cells
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent metopic ridge
|
phenotype |
|
Finding
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Contractures of the joints of the lower limbs
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal C-peptide level
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated hemoglobin A1c
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
104
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the immune system
|
disease |
|
Pathologic Function
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital Hyperinsulinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Renal cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
90
|
|
0.100 |
None |
|
0 |
|
|
|