Phenotypic Series - PS310700 - OMIM

Phenotypic Series - PS310700


Nystagmus, congenital - PS310700 - 9 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
1q32 Nystagmus 7, congenital, autosomal dominant AD 4 614826 NYS7 614826
3p12.3 ?Nystagmus 8, congenital, autosomal recessive AR 3 257400 ROBO1 602430
6p12 Nystagmus 2, congenital, autosomal dominant AD 2 164100 NYS2 164100
7p11.2 Nystagmus 3, congenital, autosomal dominant AD 2 608345 NYS3 608345
Xp22.2 Nystagmus 6, congenital, X-linked XLR 3 300814 GPR143 300808
Xp11.4 Nystagmus 5, congenital, X-linked XLD 2 300589 NYS5 300589
Xq26.2 Nystagmus 1, congenital, X-linked XL 3 310700 FRMD7 300628
Xq26.2 Nystagmus, infantile periodic alternating, X-linked XL 3 310700 FRMD7 300628
Not Mapped ?Nystagmus, congenital, autosomal recessive AR 257400 NYSAR 257400



Phenotype Mapping Key
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.
2 - The disorder was placed on the map by statistical methods.
3 - The molecular basis of the disorder is known.
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.

Phenotypic Series - PS310700


Nystagmus, congenital - PS310700 - 9 Entries

Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1q32 Nystagmus 7, congenital, autosomal dominant AD 4 614826 NYS7 614826
3p12.3 ?Nystagmus 8, congenital, autosomal recessive AR 3 257400 ROBO1 602430
6p12 Nystagmus 2, congenital, autosomal dominant AD 2 164100 NYS2 164100
7p11.2 Nystagmus 3, congenital, autosomal dominant AD 2 608345 NYS3 608345
Xp22.2 Nystagmus 6, congenital, X-linked XLR 3 300814 GPR143 300808
Xp11.4 Nystagmus 5, congenital, X-linked XLD 2 300589 NYS5 300589
Xq26.2 Nystagmus 1, congenital, X-linked XL 3 310700 FRMD7 300628
Xq26.2 Nystagmus, infantile periodic alternating, X-linked XL 3 310700 FRMD7 300628
Not Mapped ?Nystagmus, congenital, autosomal recessive AR 257400 NYSAR 257400



Phenotype Mapping Key
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.
2 - The disorder was placed on the map by statistical methods.
3 - The molecular basis of the disorder is known.
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.


Inheritance Abbreviations
?AD ?Autosomal dominant
?XLR ?X-linked recessive
AD Autosomal dominant
AR Autosomal recessive
PD Pseudoautosomal dominant
PR Pseudoautosomal recessive
DD Digenic dominant
DR Digenic recessive
ICB Inherited chromosomal imbalance
IC Isolated cases
Mi Mitochondrial
Mu Multifactorial
SMo Somatic mosaicism
SMu Somatic mutation
XL X-linked
XLD X-linked dominant
XLR X-linked recessive
YL Y-linked


NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 1, 2024