Alwadei Syndrome
Alwadei Syndrome or Autosomal recessive mental retardation-61 (MRT61) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and variable abnormal facial features.
 Severe patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum.
Alwadei Syndrome attributed to mutation in RUSC2 gene on chromosome 9p13.3.

It was first described at King Fahd Medical City by the pediatric neurologist Ali Alwadei in 2014. The syndrome was recognized and published in medical journal Developmental Medicine & Child Neurology in 2016. In 2017, Johns Hopkins University named the syndrome as "Alwadei Syndrome".
Q186380
autosomal
Concept
Q3454555
recessive
Concept
Q3450985
neurodevelopmental disorder
Concept
Q7256440
delayed psychomotor development
UNK
Q183560
intellectual disability
Concept
Q37017
facial features
Concept
Q6279182
seizures
Concept
Q1135124
hypoplasia of the corpus callosum
Concept
Q42918
mutation
Concept
None
RUSC2 gene
UNK
Q6411562
King Fahd Medical City
LOC
None
Ali Alwadei
UNK
Q15716651
Developmental Medicine & Child Neurology
MEDIA
Q193727
Johns Hopkins University
LOC
Q53660493
Alwadei Syndrome
DIS
Q53660493
Alwadei Syndrome
DIS
Q53660493
Alwadei Syndrome
DIS
2014-01-01T00:00:00Z^^http://www.w3.org/2001/XMLSchema#dateTime
2014
DATE
2016-01-01T00:00:00Z^^http://www.w3.org/2001/XMLSchema#dateTime
2016
DATE
2017-01-01T00:00:00Z^^http://www.w3.org/2001/XMLSchema#dateTime
2017
DATE
-61^^http://www.w3.org/2001/XMLSchema#decimal
-61
NUMBER
+61^^http://www.w3.org/2001/XMLSchema#decimal
61
NUMBER
+2^^http://www.w3.org/2001/XMLSchema#decimal
2
NUMBER
+9^^http://www.w3.org/2001/XMLSchema#decimal
9
NUMBER
+13.3^^http://www.w3.org/2001/XMLSchema#decimal
13.3
NUMBER
subclass of