Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Nail dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
78
|
2
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Decreased circulating cortisol level
|
phenotype |
Immune System Diseases; Endocrine System Diseases
|
Finding
|
23
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus carinatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
138
|
26
|
0.100 |
None |
|
0 |
1
|
|
|
Facial grimacing
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Microretrognathia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Finding
|
53
|
6
|
0.100 |
None |
|
0 |
|
|
|
Paroxysmal bursts of laughter
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.100 |
None |
|
0 |
|
|
|
Dry skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
159
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
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 |
|
|
|
Valgus deformities of feet
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
26
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Claw hand
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
63
|
3
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
171
|
12
|
0.100 |
None |
|
0 |
|
|
|
ATRIOVENTRICULAR CANAL DEFECT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
55
|
14
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the epiglottis
|
disease |
|
Congenital Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Absent radius
|
disease |
|
Congenital Abnormality
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thyroid Dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Congenital Abnormality
|
24
|
5
|
0.100 |
None |
|
0 |
|
|
|
Distal shortening of limbs
|
phenotype |
|
Finding
|
6
|
3
|
0.100 |
None |
|
0 |
|
|
|
Thyroid Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Disease or Syndrome
|
14
|
6
|
0.100 |
None |
|
0 |
|
|
|