MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
|
0.500 |
limited |
1.000 |
2 |
|
2007 |
2015 |
NF1 Microdeletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2017 |
Growth Disorders
|
group |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Thick lower lip vermilion
|
phenotype |
|
Finding
|
145
|
10
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Advanced bone age
|
phenotype |
|
Finding
|
64
|
4
|
0.100 |
None |
|
0 |
|
|
|
Large for gestational age
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
43
|
10
|
0.100 |
None |
|
0 |
|
|
|
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
|
|
|
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
|
0 |
|
|
|
Cranial asymmetry
|
phenotype |
|
Finding
|
10
|
3
|
0.100 |
None |
|
0 |
|
|
|
Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
40
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of pulmonary valve
|
disease |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Unilateral Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
17
|
5
|
0.100 |
None |
|
0 |
|
|
|
Broad nasal tip
|
phenotype |
|
Finding
|
125
|
8
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
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 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Apraxia of Phonation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
30
|
9
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the optic nerve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
59
|
14
|
0.100 |
None |
|
0 |
|
|
|