RPL10

ribosomal protein L10
OMIM: 312173
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998
R-numbers: R146
Signed-off version 4.5
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, syndromic, 35 300998
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, syndromic, 35, OMIM:300998, Intellectual disability, X-linked, syndromic, 35, MONDO:0030908
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, syndromic, 35
R-numbers: R88
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, syndromic, 35 300998