X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
MONDO:0020022
central nervous system malformation
is_a
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRX60 (formerly)
related
OPHN1 XLMR
related
OPHN1 XLMR, X-linked intellectual disability
related
OPHN1 deficiency
related
OPHN1 syndrome
exact
OPHN1- related XLID
related
Oligophrenin-1 syndrome
exact
X-linked intellectual Deficit with cerebellar Hypoplasia
related
X-linked intellectual disability-cerebellar hypoplasia syndrome
exact
intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive
exact
intellectual disability X-linked 60 (formerly)
related
intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance
related
intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance
related
mental retardation X-linked 60 (formerly)
related
mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
related
mental retardation, X-linked 60
related
mental retardation, X-linked 60, formerly
related
mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
related