Keratoconjunctivitis Sicca
|
disease |
Eye Diseases
|
Disease or Syndrome
|
90
|
3
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Irregularly spaced teeth
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Progressive hearing loss stapes fixation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
35
|
0.400 |
None |
|
0 |
17
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Sparse eyelashes
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Absent eyelashes
|
phenotype |
|
Congenital Abnormality
|
21
|
1
|
0.100 |
None |
|
0 |
|
|
|
Respiratory distress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
259
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Ichthyosis follicularis atrichia photophobia syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Other congenital ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
1
|
|
0.200 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Hypoplastic toenails
|
phenotype |
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of the 5th finger
|
phenotype |
|
Finding
|
6
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Autoamputation of digits
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic fingernail
|
phenotype |
|
Finding
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal eyelash morphology
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
2
|
0.600 |
None |
|
0 |
1
|
|
|
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
1
|
0.600 |
None |
|
0 |
1
|
|
|
Leukoplakia, Oral
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
144
|
6
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
1
|
|
|