Chronic constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
47
|
16
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.100 |
None |
|
0 |
|
|
|
Congenital hemivertebra
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|
Hand polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
75
|
1
|
0.100 |
None |
|
0 |
|
|
|
Coloboma of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
30
|
14
|
0.100 |
None |
|
0 |
|
|
|
Low anterior hairline
|
phenotype |
|
Finding
|
71
|
17
|
0.100 |
None |
|
0 |
|
|
|
Oval face
|
phenotype |
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
|
|
|
OBESITY, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Language Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
94
|
25
|
0.100 |
None |
|
0 |
|
|
|
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
89
|
6
|
0.100 |
None |
|
0 |
|
|
|
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16
|
phenotype |
|
Finding
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Moderate receptive language delay
|
phenotype |
|
Mental or Behavioral Dysfunction
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
AUTISM, SUSCEPTIBILITY TO, 14A
|
phenotype |
|
Finding
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|