WDR37

WD repeat domain 37
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SYNDROMIC INTELLECTUAL DISABILITY 612100
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Abnormality of nervous system morphology, Hearing abnormality, Abnormality of the cardiovascular system, Abnormality of the skeletal system, Abnormality of the genitourinary system, Neurooculocardiogenitourinary syndrome, OMIM:618652
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Abnormality of nervous system morphology, Hearing abnormality, Abnormality of the cardiovascular system, Abnormality of the skeletal system, Abnormality of the genitourinary system, Neurooculocardiogenitourinary syndrome, OMIM:618652
R-numbers: R88
Signed-off version 5.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurooculocardiogenitourinary syndrome, OMIM:618652
R-numbers: R36
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
corneal opacity, Peters anomaly, coloboma, microcornea, Neurooculocardiogenitourinary syndrome, OMIM:61865, MONDO:0032850