Renpenning syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.800 |
definitive |
1.000 |
25 |
5
|
1994 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.500 |
None |
1.000 |
18 |
2
|
1998 |
2019 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.450 |
None |
1.000 |
7 |
|
2003 |
2015 |
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.410 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.400 |
None |
1.000 |
13 |
|
1994 |
2013 |
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.400 |
None |
1.000 |
1 |
|
2018 |
2018 |
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.400 |
None |
1.000 |
1 |
|
2018 |
2018 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.400 |
None |
1.000 |
1 |
|
2018 |
2018 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.400 |
None |
1.000 |
1 |
|
2006 |
2006 |
Partial agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
1
|
0.310 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.300 |
None |
1.000 |
3 |
|
2003 |
2006 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
3 |
|
2003 |
2006 |
Growth Disorders
|
group |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
39
|
|
0.300 |
None |
1.000 |
2 |
|
2003 |
2006 |
Persistent Ostium Primum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Ostium secundum atrial septal defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
37
|
10
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
X-Linked, Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Autosomal Recessive Hereditary Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Contracture
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
111
|
12
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
27
|
7
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
HMSN Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.300 |
None |
|
0 |
|
|
|
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.180 |
None |
1.000 |
8 |
1
|
1992 |
2011 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
6 |
1
|
1962 |
2011 |