Disease #00009 (EPM1A (epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg)), OMIM:254800)

Official abbreviation EPM1A
Name epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg)
OMIM ID 254800
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 3
Associated with 1 gene CSTB
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00001503 - - - M - - - - - - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, LGMD2I;MDDGC5, MCLMR, PSORS, USH3B brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023); ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00092276 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - United States - - - - - EPM1A neurodegenerative phenotype, neurotransmitter abnormalities; seizures responded to Levocarbidopa and 5OH-tryptophan CSTB CSTB 1 2 Johan den Dunnen
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