Photomyoclonic seizures

Symptom Information:

Symptom ID: HPO:0001327
Synonyms:
Seizure [HPO:0001327]
Photomyoclonic seizures [OMIM:Photomyoclonic seizures]
Seizure (Jacksonian) [OMIM:Seizure (Jacksonian)]
Seizure (in a subset of patients in infancy) [OMIM:Seizure (in a subset of patients in infancy)]
Seizure (in some patients) [OMIM:Seizure (in some patients)]
Seizures (1 family) [OMIM:Seizures (1 family)]
Seizures (1 patient) [OMIM:Seizures (1 patient)]
Seizures (2 patients) [OMIM:Seizures (2 patients)]
Seizures (2-10% of patients) [OMIM:Seizures (2-10% of patients)]
Seizures (3 patients) [OMIM:Seizures (3 patients)]
Seizures (40%) [OMIM:Seizures (40%)]
Seizures (50% of patients) [OMIM:Seizures (50% of patients)]
Seizures (50%) [OMIM:Seizures (50%)]
Seizures (> 90%) [OMIM:Seizures (> 90%)]
Seizures (CVS+) [OMIM:Seizures (CVS+)]
Seizures (MEB) [OMIM:Seizures (MEB)]
Seizures (about 50% of patients) [OMIM:Seizures (about 50% of patients)]
Seizures (adult) [OMIM:Seizures (adult)]
Seizures (eclampsia) [OMIM:Seizures (eclampsia)]
Seizures (if left untreated) [OMIM:Seizures (if left untreated)]
Seizures (in 1 of 3 patients) [OMIM:Seizures (in 1 of 3 patients)]
Seizures (in 1 patient) [OMIM:Seizures (in 1 patient)]
Seizures (in 2 of 6 patients) [OMIM:Seizures (in 2 of 6 patients)]
Seizures (in 2 of 9 patients) [OMIM:Seizures (in 2 of 9 patients)]
Seizures (in 2 patients) [OMIM:Seizures (in 2 patients)]
Seizures (in 35%) [OMIM:Seizures (in 35%)]
Seizures (in most patients) [OMIM:Seizures (in most patients)]
Seizures (in one patient) [OMIM:Seizures (in one patient)]
Seizures (in some patients) [OMIM:Seizures (in some patients)]
Seizures (in some patients)) [OMIM:Seizures (in some patients))]
Seizures (in some) [OMIM:Seizures (in some)]
Seizures (juvenile form) [OMIM:Seizures (juvenile form)]
Seizures (less common) [OMIM:Seizures (less common)]
Seizures (mean onset 4-5 months) [OMIM:Seizures (mean onset 4-5 months)]
Seizures (onset <2 years) [OMIM:Seizures (onset <2 years)]
Seizures (rare) [OMIM:Seizures (rare)]
Seizures (rare, in males) [OMIM:Seizures (rare, in males)]
Seizures (reported in 1 family) [OMIM:Seizures (reported in 1 family)]
Seizures (reported in 2 patients) [OMIM:Seizures (reported in 2 patients)]
Seizures (some patients) [OMIM:Seizures (some patients)]
Seizures (tetany) [OMIM:Seizures (tetany)]
Seizures (type I and type II, juvenile) [OMIM:Seizures (type I and type II, juvenile)]
Seizures (uncommon) [OMIM:Seizures (uncommon)]
Seizures (variable) [OMIM:Seizures (variable)]
Seizures (incl subtypes) [MedDRA:10039911]
Quality:
Cross references:
OMIM: "Photomyoclonic seizures" [OMIM:Photomyoclonic seizures]
OMIM: "Seizure (Jacksonian)" [OMIM:Seizure (Jacksonian)]
OMIM: "Seizure (in a subset of patients in infancy)" [OMIM:Seizure (in a subset of patients in infancy)]
OMIM: "Seizure (in some patients)" [OMIM:Seizure (in some patients)]
OMIM: "Seizures (1 family)" [OMIM:Seizures (1 family)]
OMIM: "Seizures (1 patient)" [OMIM:Seizures (1 patient)]
OMIM: "Seizures (2 patients)" [OMIM:Seizures (2 patients)]
OMIM: "Seizures (2-10% of patients)" [OMIM:Seizures (2-10% of patients)]
OMIM: "Seizures (3 patients)" [OMIM:Seizures (3 patients)]
OMIM: "Seizures (40%)" [OMIM:Seizures (40%)]
OMIM: "Seizures (50% of patients)" [OMIM:Seizures (50% of patients)]
OMIM: "Seizures (50%)" [OMIM:Seizures (50%)]
OMIM: "Seizures (> 90%)" [OMIM:Seizures (> 90%)]
OMIM: "Seizures (CVS+)" [OMIM:Seizures (CVS+)]
OMIM: "Seizures (MEB)" [OMIM:Seizures (MEB)]
OMIM: "Seizures (about 50% of patients)" [OMIM:Seizures (about 50% of patients)]
OMIM: "Seizures (adult)" [OMIM:Seizures (adult)]
OMIM: "Seizures (eclampsia)" [OMIM:Seizures (eclampsia)]
OMIM: "Seizures (if left untreated)" [OMIM:Seizures (if left untreated)]
OMIM: "Seizures (in 1 of 3 patients)" [OMIM:Seizures (in 1 of 3 patients)]
OMIM: "Seizures (in 1 patient)" [OMIM:Seizures (in 1 patient)]
OMIM: "Seizures (in 2 of 6 patients)" [OMIM:Seizures (in 2 of 6 patients)]
OMIM: "Seizures (in 2 of 9 patients)" [OMIM:Seizures (in 2 of 9 patients)]
OMIM: "Seizures (in 2 patients)" [OMIM:Seizures (in 2 patients)]
OMIM: "Seizures (in 35%)" [OMIM:Seizures (in 35%)]
OMIM: "Seizures (in most patients)" [OMIM:Seizures (in most patients)]
OMIM: "Seizures (in one patient)" [OMIM:Seizures (in one patient)]
OMIM: "Seizures (in some patients)" [OMIM:Seizures (in some patients)]
OMIM: "Seizures (in some patients))" [OMIM:Seizures (in some patients))]
OMIM: "Seizures (in some)" [OMIM:Seizures (in some)]
OMIM: "Seizures (juvenile form)" [OMIM:Seizures (juvenile form)]
OMIM: "Seizures (less common)" [OMIM:Seizures (less common)]
OMIM: "Seizures (mean onset 4-5 months)" [OMIM:Seizures (mean onset 4-5 months)]
OMIM: "Seizures (onset <2 years)" [OMIM:Seizures (onset <2 years)]
OMIM: "Seizures (rare)" [OMIM:Seizures (rare)]
OMIM: "Seizures (rare, in males)" [OMIM:Seizures (rare, in males)]
OMIM: "Seizures (reported in 1 family)" [OMIM:Seizures (reported in 1 family)]
OMIM: "Seizures (reported in 2 patients)" [OMIM:Seizures (reported in 2 patients)]
OMIM: "Seizures (some patients)" [OMIM:Seizures (some patients)]
OMIM: "Seizures (tetany)" [OMIM:Seizures (tetany)]
OMIM: "Seizures (type I and type II, juvenile)" [OMIM:Seizures (type I and type II, juvenile)]
OMIM: "Seizures (uncommon)" [OMIM:Seizures (uncommon)]
OMIM: "Seizures (variable)" [OMIM:Seizures (variable)]
UMLS:C0036572 "Seizure" [HPO:0001327]
Is a (Direct Parents):
MedDRA Nervous system disorders
HPO         Generalized myoclonic seizures
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)
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)