Variable expressivity
phenotype
Finding
319
0.100
None
0
Death in infancy
phenotype
Finding
146
7
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Absent speech
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
232
72
0.100
None
0
Severe muscular hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
75
9
0.100
None
0
Hypoplasia of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
385
49
0.100
None
0
Renal tubular acidosis
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
52
3
0.100
None
0
Hyporeflexia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
312
0.100
None
0
Myopathy
group
Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
634
166
0.100
None
0
Decreased liver function
phenotype
Finding
59
5
0.100
None
0
Absent reflex
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
201
16
0.100
None
0
Renal Cell Dysplasia
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
81
3
0.100
None
0
Lethargy
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
Sign or Symptom
160
6
0.100
None
0
Fatty Liver
disease
Digestive System Diseases
Disease or Syndrome
875
35
0.100
None
0
Congenital hypoplasia of kidney
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
96
8
0.100
None
0
Pachygyria
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
129
8
0.100
None
0
Simple renal cyst
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
100
2
0.100
None
0
Feeding difficulties
phenotype
Finding
473
62
0.100
None
0
Neoplasms
group
Neoplasms
Neoplastic Process
10161
1644
0.020
None
1.000
2
1998
1998
Kidney Failure
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
378
36
0.020
None
1.000
2
2015
2016
Encephalopathies
group
Nervous System Diseases
Disease or Syndrome
457
64
0.020
None
1.000
2
2012
2016
B-Cell Lymphomas
group
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
1408
42
0.010
None
1.000
1
1998
1998
×
CUI:
C0010709
Disease:
Cyst
Cyst
disease
Pathological Conditions, Signs and Symptoms; Neoplasms
Disease or Syndrome
221
6
0.010
None
1.000
1
2017
2017
Dysautonomia
disease
Nervous System Diseases
Disease or Syndrome
148
18
0.010
None
1.000
1
2015
2015
Congenital lactic acidosis
disease
Nutritional and Metabolic Diseases
Congenital Abnormality
12
5
0.010
None
1.000
1
2015
2015