syndromic X-linked intellectual disability Lubs type
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0017010
partial duplication of the long arm of chromosome X
is_a
MONDO:0020119
X-linked syndromic intellectual disability
is_a
Lubs X-linked intellectual disability syndrome
exact
Lubs X-linked intellectual disability syndrome (formerly)
related
Lubs X-linked mental retardation syndrome
exact
Lubs X-linked mental retardation syndrome (formerly)
related
MECP2 duplication syndrome
exact
MRXSL
exact
XLMR syndrome, Lubs type
related
Xq28 (MECP2) duplication
exact
distal duplication Xq
exact
intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive
exact
intellectual disability, X-linked, Lubs type (formerly)
related
intellectual disability, X-linked, syndromic, Lubs type
exact
intellectual disability, X-linked, with recurrent respiratory infections
exact
mental retardation, X-linked, Lubs type (formerly)
related
mental retardation, X-linked, with recurrent respiratory infections
exact
syndromic X-linked intellectual disability Lubs type
exact
telomeric duplication Xq
exact