Opitz-G syndrome, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
4
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2010 |
Opitz GBBB Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
79
|
24
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2002 |
FG syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
12
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|
Long palpebral fissure
|
phenotype |
|
Finding
|
73
|
10
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Widened subarachnoid space
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thick lower lip vermilion
|
phenotype |
|
Finding
|
145
|
10
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Periorbital fullness
|
phenotype |
|
Finding
|
57
|
4
|
0.100 |
None |
|
0 |
|
|
|
Absence Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
205
|
8
|
0.100 |
None |
|
0 |
|
|
|
Moderate sensorineural hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 2nd toe
|
disease |
|
Anatomical Abnormality
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Shortening of all distal phalanges of the fingers
|
phenotype |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Mild neurosensory hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
2-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
85
|
16
|
0.100 |
None |
|
0 |
|
|
|
Profound intellectual disabilities
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
112
|
10
|
0.100 |
None |
|
0 |
|
|
|
Thin upper lip vermilion
|
phenotype |
|
Finding
|
211
|
25
|
0.100 |
None |
|
0 |
|
|
|
Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Urinary Incontinence
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
151
|
14
|
0.100 |
None |
|
0 |
|
|
|
Drooling
|
phenotype |
Stomatognathic Diseases
|
Finding
|
95
|
14
|
0.100 |
None |
|
0 |
|
|
|