Lissencephaly, X-Linked, 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
25
|
0.740 |
None |
1.000 |
7 |
25
|
2002 |
2016 |
Proud Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
1
|
0.700 |
strong |
1.000 |
2 |
1
|
2002 |
2004 |
Hydranencephaly and Abnormal Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.600 |
moderate |
1.000 |
1 |
2
|
2004 |
2004 |
Polymicrogyria, Asymmetric
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Apraxia, Ideomotor
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.700 |
strong |
1.000 |
19 |
7
|
2002 |
2015 |
RUSSELL-SILVER SYNDROME, X-LINKED
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
|
0.040 |
None |
1.000 |
4 |
|
1996 |
2015 |
Refractory infantile spasms
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
FOXG1 syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
5
|
46
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Long upper lip
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Facial telangiectasia
|
phenotype |
Cardiovascular Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, X-Linked 19
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
9
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Congenital malformation of genital organs
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Athetoid cerebral palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Cryptogenic Infantile Spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Overcurvature of nail
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Broad alveolar ridges
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Limb joint contracture
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
1
|
0.740 |
strong |
1.000 |
6 |
1
|
1996 |
2015 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
30
|
0.700 |
definitive |
1.000 |
28 |
14
|
2002 |
2018 |
X-Linked Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
1
|
0.100 |
None |
1.000 |
11 |
1
|
2003 |
2013 |
Uni- and bilateral multifocal epileptiform discharges
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Hydranencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Absent thumbnail
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal hair pattern
|
disease |
|
Anatomical Abnormality
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|