Slender build
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Widely patent fontanelles and sutures
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Parietal bossing
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
|
|
|
Recurrent skin infections
|
phenotype |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Severe intrauterine growth retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
9
|
3
|
0.100 |
None |
|
0 |
|
|
|
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
|
0 |
|
|
|
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.100 |
None |
|
0 |
|
|
|
Impaired vibration sensation in the lower limbs
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Loss of facial adipose tissue
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Narrow nasal ridge
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Primary hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Arnold-Chiari Malformation, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
41
|
1
|
0.100 |
None |
|
0 |
|
|
|
Recurrent otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
120
|
11
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Long foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Spastic tetraparesis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
50
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Caliectasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Lipoatrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
106
|
6
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Dermal translucency
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|