Phenotype: Pendular nystagmus (HP:0012043)
Associated genes and diseases:
gene_symbol: ARHGEF2
disease_id: OMIM:617523
disease_name: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
gene_symbol: LRP5
disease_id: OMIM:601813
disease_name: EXUDATIVE VITREORETINOPATHY 4
gene_symbol: MT-ATP6
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: NUP54
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: ADAR
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: SCN1A
disease_id: OMIM:619317
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B
gene_symbol: ATOH7
disease_id: OMIM:221900
disease_name: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
gene_symbol: ATF6
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PDE6C
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: RPGR
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PDE6H
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: GNAT2
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CNGA3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CNGA3
disease_id: OMIM:216900
disease_name: ACHROMATOPSIA 2
gene_symbol: CNGB3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: OPN1SW
disease_id: ORPHA:88629
disease_name: Tritanopia
Blue colour blindness
Congenital tritanopia
Tritan colour blindness
gene_symbol: RARS1
disease_id: OMIM:616140
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 9
gene_symbol: OPN1LW
disease_id: OMIM:303700
disease_name: BLUE CONE MONOCHROMACY
gene_symbol: OPN1MW
disease_id: OMIM:303700
disease_name: BLUE CONE MONOCHROMACY
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: TMEM63A
disease_id: OMIM:618688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE
gene_symbol: CNNM4
disease_id: OMIM:217080
disease_name: JALILI SYNDROME
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: PPOX
disease_id: OMIM:620483
disease_name: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET
gene_symbol: AIPL1
disease_id: OMIM:604393
disease_name: LEBER CONGENITAL AMAUROSIS 4
gene_symbol: FRMD7
disease_id: OMIM:310700
disease_name: NYSTAGMUS 1, CONGENITAL, X-LINKED
gene_symbol: DLAT
disease_id: OMIM:245348
disease_name: PYRUVATE DEHYDROGENASE E2 DEFICIENCY
gene_symbol: NUP62
disease_id: OMIM:271930
disease_name: STRIATONIGRAL DEGENERATION, INFANTILE
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
gene_symbol: PLP1
disease_id: ORPHA:280210
disease_name: Pelizaeus-Merzbacher disease, connatal form
Connatal PMD
Pelizaeus-Merzbacher disease type II
Severe PMD
gene_symbol: NT5C2
disease_id: ORPHA:320396
disease_name: Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 65
SPG45
SPG65
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
gene_symbol: P4HTM
disease_id: OMIM:618493
disease_name: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
gene_symbol: TENM3
disease_id: OMIM:615145
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
gene_symbol: CARS1
disease_id: OMIM:618891
disease_name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: HMGB3
disease_id: OMIM:300915
disease_name: MICROPHTHALMIA, SYNDROMIC 13
gene_symbol: DNMBP
disease_id: OMIM:618415
disease_name: CATARACT 48
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: CRX
disease_id: OMIM:613829
disease_name: LEBER CONGENITAL AMAUROSIS 7
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: CLTCL1
disease_id: ORPHA:453510
disease_name: Congenital insensitivity to pain with severe intellectual disability
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay