Short long bone
|
phenotype |
|
Finding
|
42
|
19
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the helix
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Late fontanel closure
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
6
|
0.100 |
None |
|
0 |
|
|
|
Limitation of joint mobility
|
phenotype |
|
Finding
|
84
|
3
|
0.100 |
None |
|
0 |
|
|
|
Open Bite
|
phenotype |
Stomatognathic Diseases
|
Congenital Abnormality
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Capitate-hamate fusion
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of the kidney
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
63
|
4
|
0.100 |
None |
|
0 |
|
|
|
Unilateral agenesis of kidney
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
69
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Neuronal heterotopia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
67
|
3
|
0.100 |
None |
|
0 |
|
|
|
Congenital ear anomaly NOS (disorder)
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
5
|
0.100 |
None |
|
0 |
|
|
|
Posterior fossa compression syndrome
|
disease |
|
Disease or Syndrome
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Leiomyosarcoma of uterus
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
71
|
|
0.100 |
None |
|
0 |
|
|
|
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.100 |
None |
|
0 |
|
|
|
Xerostomia
|
disease |
Stomatognathic Diseases
|
Finding
|
56
|
1
|
0.100 |
None |
|
0 |
|
|
|
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.100 |
None |
|
0 |
|
|
|
Lymphoma, T-Cell, Cutaneous
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
367
|
5
|
0.300 |
None |
|
0 |
|
|
|
Bell-shaped thorax
|
phenotype |
|
Finding
|
26
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Sudden Cardiac Death
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
133
|
40
|
0.100 |
None |
|
0 |
|
|
|
Cone-shaped epiphysis
|
phenotype |
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Broad femoral metaphyses
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|