Familial aplasia of the vermis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
95
|
187
|
0.310 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Orofaciodigital Syndromes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
19
|
1
|
0.310 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
OROFACIODIGITAL SYNDROME VI
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
29
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Biparietal narrowing
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
Midline notch of upper alveolar ridge
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Central Y-shaped metacarpal
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Mesoaxial polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
100
|
26
|
0.100 |
None |
|
0 |
|
|
|
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.100 |
None |
|
0 |
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
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 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of olfactory tract
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal oral frenulum morphology
|
disease |
|
Anatomical Abnormality
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Episodic tachypnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
31
|
1
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Highly arched eyebrow
|
phenotype |
|
Finding
|
141
|
14
|
0.100 |
None |
|
0 |
|
|
|