Photomyoclonic seizures
Symptom Information:
Symptom ID: | HPO:0001327 | |||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the nervous system(HPO:0000707) Abnormality of nervous system physiology(HPO:0012638) Seizures(HPO:0001250) Generalized seizures(HPO:0002197) Generalized myoclonic seizures(HPO:0002123) Photomyoclonic seizures(HPO:0001327) MedDRA: Nervous system disorders(MedDRA:10029205) Photomyoclonic seizures(HPO:0001327) |
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Database Frequency: | 125 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
17q12 microdeletion syndrome | (Orphanet:261265) |
17q12 microduplication syndrome | (Orphanet:261272) |
1q21.1 microduplication syndrome | (Orphanet:250994) |
2q37 microdeletion syndrome | (Orphanet:1001) |
5p13 microduplication syndrome | (Orphanet:329802) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Aspartylglucosaminuria | (Orphanet:93) |
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy | (Orphanet:1192) |
Autosomal dominant spastic paraplegia type 6 | (Orphanet:100988) |
Autosomal recessive ataxia due to ubiquinone deficiency | (Orphanet:139485) |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | (Orphanet:363429) |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | (Orphanet:324262) |
Autosomal recessive limb-girdle muscular dystrophy type 2T | (Orphanet:363623) |
Autosomal recessive spastic paraplegia type 18 | (Orphanet:209951) |
Autosomal recessive spastic paraplegia type 44 | (Orphanet:320401) |
Autosomal recessive spastic paraplegia type 49 | (Orphanet:320385) |
Beta-mannosidosis | (Orphanet:118) |
Beta-propeller protein-associated neurodegeneration | (Orphanet:329284) |
Beta-ureidopropionase deficiency | (Orphanet:65287) |
Bifunctional enzyme deficiency | (Orphanet:300) |
CADASIL | (Orphanet:136) |
CADDS | (Orphanet:369942) |
CANDLE syndrome | (Orphanet:325004) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 | (OMIM:224050) |
COG4-CDG | (Orphanet:263501) |
COLD-INDUCED SWEATING SYNDROME 1 | (OMIM:272430) |
CYCLIC VOMITING SYNDROME | (OMIM:500007) |
Cabezas syndrome | (Orphanet:85293) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | (Orphanet:293955) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Chudley-McCullough syndrome | (Orphanet:314597) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Congenital cataract-hearing loss-severe developmental delay syndrome | (Orphanet:300313) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect | (Orphanet:280671) |
Congenital muscular dystrophy type 1A | (Orphanet:258) |
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | (Orphanet:300570) |
DIGEORGE SYNDROME | (OMIM:188400) |
DK1-CDG | (Orphanet:91131) |
Dihydropyrimidinuria | (Orphanet:38874) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 6p | (Orphanet:96125) |
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY | (OMIM:614520) |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 | (OMIM:158900) |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness | (Orphanet:280406) |
Glutaryl-CoA dehydrogenase deficiency | (Orphanet:25) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 | (OMIM:614749) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 | (OMIM:614207) |
Holmes-Gang syndrome | (Orphanet:93970) |
Huntington disease | (Orphanet:399) |
Hypomyelination - congenital cataract | (Orphanet:85163) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED | (OMIM:300048) |
Intellectual deficiency - hypotonia - spasticity - sleep disorder | (Orphanet:356996) |
JMP syndrome | (Orphanet:324999) |
Joubert syndrome 9 | (OMIM:612285) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
Juvenile Huntington disease | (Orphanet:248111) |
Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency | (Orphanet:352497) |
Koolen-De Vries syndrome | (Orphanet:96169) |
Kostmann syndrome | (Orphanet:99749) |
Kufor-Rakeb syndrome | (Orphanet:306674) |
MEGDEL syndrome | (Orphanet:352328) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 | (OMIM:613192) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | (OMIM:614202) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | (OMIM:611091) |
MENTAL RETARDATION, X-LINKED 21 | (OMIM:300143) |
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS | (OMIM:604317) |
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:608716) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | (OMIM:141500) |
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 | (OMIM:602481) |
MIGRAINE, FAMILIAL HEMIPLEGIC, 3 | (OMIM:609634) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | (OMIM:613662) |
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | (OMIM:614741) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 | (OMIM:613150) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 | (OMIM:615351) |
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET | (OMIM:614399) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Maternal hyperphenylalaninemia | (Orphanet:2209) |
Microlissencephaly | (Orphanet:1083) |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | (Orphanet:314637) |
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism | (Orphanet:280679) |
Myhre syndrome | (Orphanet:2588) |
Nakajo-Nishimura syndrome | (Orphanet:2615) |
Nephronophthisis 15 | (OMIM:614845) |
Nephronophthisis-like nephropathy 1 | (OMIM:613159) |
Norrie disease | (Orphanet:649) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | (OMIM:259700) |
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA | (OMIM:615198) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
PAROXYSMAL NONKINESIGENIC DYSKINESIA 2 | (OMIM:611147) |
PEHO syndrome | (Orphanet:2836) |
PEHO-like syndrome | (Orphanet:99807) |
PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRALDYSFUNCTION | (OMIM:172500) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
PREECLAMPSIA/ECLAMPSIA 1 | (OMIM:189800) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 | (OMIM:609286) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 | (OMIM:610131) |
Pancreatic hypoplasia - diabetes - congenital heart disease | (Orphanet:2255) |
Parkinsonim due to ATP13A2 deficiency | (Orphanet:314632) |
Pelizaeus-Merzbacher-like due to AIMP1 mutation | (Orphanet:280293) |
Perrault Syndrome 3 | (OMIM:614129) |
Phenylketonuria | (Orphanet:716) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Premature chromosome condensation with microcephaly and intellectual deficit | (Orphanet:52183) |
Progressive hemifacial atrophy | (Orphanet:1214) |
Proteasome disability syndrome | (Orphanet:324977) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Renpenning syndrome | (Orphanet:3242) |
SCHAAF-YANG SYNDROME | (OMIM:615547) |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis | (Orphanet:70595) |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | (Orphanet:369939) |
Sialidosis type 1 | (Orphanet:812) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Spinocerebellar ataxia with epilepsy | (Orphanet:254881) |
TMEM165-CDG | (Orphanet:314667) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |