early-onset parkinsonism-intellectual disability syndrome
A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MONDO:0021095
parkinsonian disorder
is_a
BGMR
related
Laxova Brown hogan syndrome
related
Laxova-Opitz syndrome
exact
Parkinsonism, early onset with intellectual disability
related
Parkinsonism, early onset with mental retardation
related
Parkinsonism, early-onset, with mental retardation
related
WAISMAN syndrome
related
WSMN
related
Waisman syndrome
exact
Waisman syndrome, X-linked recessive
exact
X-linked recessive basal ganglia disorder with intellectual disability
related
X-linked recessive basal ganglia disorder with mental retardation
related
basal ganglia disorder with intellectual disability
related
basal ganglia disorder with mental retardation
related
basal ganglion disorder with mental retardation
related
early-onset parkinsonism-intellectual disability syndrome
exact