Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Pathologic Function
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Narrow nasal bridge
|
phenotype |
|
Finding
|
47
|
2
|
0.100 |
None |
|
0 |
|
|
|
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.100 |
None |
|
0 |
|
|
|
Failure to thrive in infancy
|
phenotype |
|
Finding
|
97
|
12
|
0.100 |
None |
|
0 |
|
|
|
Downturned corners of mouth
|
phenotype |
|
Anatomical Abnormality
|
122
|
14
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Narrow palm
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypopigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of scrotum
|
phenotype |
|
Congenital Abnormality
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
Adrenal gland hypofunction
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
90
|
10
|
0.100 |
None |
|
0 |
|
|
|
Royer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
|
0 |
|
|
|
Reduced fetal movement
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
169
|
17
|
0.100 |
None |
|
0 |
|
|
|
Primary physiologic amenorrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
129
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Sleep Apnea Syndromes
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Oligomenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
37
|
1
|
0.100 |
None |
|
0 |
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|