Talus valgus
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Caliectasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the ribs
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
42
|
0.410 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Congenital muscular hypertrophy-cerebral syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
50
|
0.730 |
None |
1.000 |
14 |
50
|
2006 |
2019 |
Cornelia de Lange Syndrome 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
20
|
0.300 |
None |
|
0 |
|
|
|
Cornelia de Lange Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
266
|
0.300 |
None |
|
0 |
|
|
|
Phthisis bulbi
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Prenatal movement abnormality
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperextensibility at elbow
|
phenotype |
|
Anatomical Abnormality
|
11
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the elbow
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Psychomotor deterioration
|
phenotype |
Mental Disorders
|
Finding
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Limited elbow movement
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Low frustration tolerance
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormally low-pitched voice
|
disease |
|
Anatomical Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Curly eyelashes
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Leukemia, Monocytic, Chronic
|
disease |
Neoplasms
|
Neoplastic Process
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Short 1st metacarpal
|
phenotype |
|
Finding
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hearing Loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
18
|
61
|
0.100 |
None |
|
0 |
1
|
|
|
Oligodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Severe psychomotor retardation
|
phenotype |
|
Mental or Behavioral Dysfunction
|
22
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Gonadal Dysgenesis, 45,X
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
HYPERTRICHOSIS, CONGENITAL GENERALIZED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Absent finger
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Severe postnatal growth retardation
|
phenotype |
|
Finding
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|