Abnormality of the midface
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Arrhinia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
2
|
|
0.140 |
None |
1.000 |
4 |
|
2017 |
2019 |
Arhinia, choanal atresia, and microphthalmia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
18
|
0.750 |
strong |
1.000 |
5 |
18
|
2017 |
2019 |
Chromosome 18p deletion syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Muscular Dystrophy, Scapulohumeral
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Absent nares
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
14
|
0.760 |
None |
1.000 |
13 |
13
|
2012 |
2019 |
Beevor's sign
|
phenotype |
|
Sign or Symptom
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Single naris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Failure of eruption of permanent teeth
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the olfactory bulb
|
disease |
|
Congenital Abnormality
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Facioscapulohumeral muscular dystrophy 1a
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
1
|
0.020 |
None |
1.000 |
2 |
1
|
2015 |
2018 |
Abdominal wall muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Small penis
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Restrictive lung disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Edema of eyelid
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Misalignment of teeth
|
phenotype |
|
Finding
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eyelash morphology
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Anosmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
40
|
4
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Submucous cleft of hard palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Sense of smell impaired
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
60
|
12
|
0.100 |
None |
|
0 |
|
|
|
Mask-like facies
|
phenotype |
Nervous System Diseases
|
Finding
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|
Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
4
|
0.100 |
None |
|
0 |
|
|
|
Winged scapula
|
phenotype |
|
Finding
|
73
|
3
|
0.100 |
None |
|
0 |
|
|
|
Amblyopia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
29
|
0.100 |
None |
|
0 |
|
|
|