MENTAL RETARDATION, X-LINKED 15
|
disease |
|
Disease or Syndrome
|
3
|
6
|
0.700 |
None |
1.000 |
2 |
6
|
2013 |
2016 |
EEG with focal spikes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Focal Tonic Seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Benign congenital hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Upper limb spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, X-Linked Nonsyndromic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
2
|
0.300 |
definitive |
1.000 |
3 |
|
2013 |
2018 |
Chondrodysplasia Punctata
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Dent's disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
23
|
12
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2009 |
Classical Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
25
|
97
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Floppy infant syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
6
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Clinodactyly of the 2nd toe
|
disease |
|
Anatomical Abnormality
|
32
|
|
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 |
|
|
|
Widened subarachnoid space
|
phenotype |
|
Finding
|
35
|
1
|
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 |
|
|
|
Ocular albinism, type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
38
|
24
|
0.020 |
None |
1.000 |
2 |
|
1995 |
1996 |
Shortening of all distal phalanges of the fingers
|
phenotype |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Complex partial seizure with impairment of consciousness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
41
|
10
|
0.100 |
None |
|
0 |
|
|
|
Lower limb spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
43
|
5
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
2016 |
2016 |
MICROPHTHALMIA, SYNDROMIC 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
46
|
7
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Periorbital fullness
|
phenotype |
|
Finding
|
57
|
4
|
0.100 |
None |
|
0 |
|
|
|
Leukomalacia, Periventricular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
62
|
10
|
0.100 |
None |
|
0 |
|
|
|
Meckel Diverticulum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
63
|
|
0.100 |
None |
|
0 |
|
|
|
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.100 |
None |
|
0 |
|
|
|