Generalized hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal septum
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal external genitalia
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|
Oligodontia
|
disease |
|
Congenital Abnormality
|
62
|
34
|
0.100 |
None |
|
0 |
|
|
|
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|
Severe sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
23
|
5
|
0.100 |
None |
|
0 |
|
|
|
Absent fifth fingernail
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypertrichosis
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
6
|
4
|
0.100 |
None |
|
0 |
|
|
|
Small, conical teeth
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thick eyebrow
|
phenotype |
|
Finding
|
104
|
13
|
0.100 |
None |
|
0 |
|
|
|
Long eyelashes
|
phenotype |
|
Finding
|
83
|
17
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic fingernail
|
phenotype |
|
Finding
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Deep palmar crease
|
phenotype |
|
Finding
|
23
|
8
|
0.100 |
None |
|
0 |
|
|
|
Deep plantar creases
|
phenotype |
|
Finding
|
19
|
6
|
0.100 |
None |
|
0 |
|
|
|
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
ZIMMERMANN-LABAND SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
2
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.100 |
None |
|
0 |
|
|
|
Fibromatosis, Gingival
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.100 |
None |
|
0 |
|
|
|
Tooth, Supernumerary
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Talipes cavus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
213
|
2
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|