OPHN1

PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance, Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486, Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486, MENTAL RETARDATION X-LINKED OPHN1-RELATED
R-numbers: R54
Signed-off version 2.13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486, X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486, MENTAL RETARDATION X-LINKED OPHN1-RELATED (MRXSO)