syndromic X-linked intellectual disability 5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0020022
central nervous system malformation
is_a
MONDO:0020119
X-linked syndromic intellectual disability
is_a
Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
related
MRX59
exact
MRXS21
exact
MRXS5
related
PETTIGREW syndrome
related
PGS
related
Pettigrew syndrome
exact
Pettigrew syndrome, X-linked recessive
exact
X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures
related
X-linked intellectual disability 59
exact
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
exact
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
exact
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome
exact
intellectual disability X-linked syndromic 5
related
intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures
related
intellectual disability, X-linked syndromic 5
exact
mental retardation X-linked syndromic 5
related
mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures
related
mental retardation, X-linked 59
related
mental retardation, X-linked, syndromic 21
related
mental retardation, X-linked, syndromic 5
related
mental retardation, X-linked, syndromic, fried type
related
mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures
related
syndromic X-linked intellectual disability 21
exact
syndromic X-linked intellectual disability fried type
exact
syndromic X-linked intellectual disability type 5
exact
SPAP27G11.06c