Online Mendelian Inheritance in Man - NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620001 http://purl.bioontology.org/ontology/OMIM/620001
Preferred Name	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
Synonyms	NEDSSBA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEDSSBA
prefLabel	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
Gene Symbol	NEDSSBA CCDC55 NSRP1 NSRP70
Scope Statement	Caused by mutation in the nuclear speckle splicing regulatory protein 1 gene (NSRP1, 616173.0001) [MOLECULAR BASIS] Onset in early infancy [MISCELLANEOUS] Death in early childhood may occur [MISCELLANEOUS] Three unrelated consanguineous families have been reported (last curated August 2022) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002109 http://purl.bioontology.org/ontology/OMIM/MTHU064174 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU076105 http://purl.bioontology.org/ontology/OMIM/MTHU039549 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU001452 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU005348 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU004124 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU071555 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU004046 http://purl.bioontology.org/ontology/OMIM/MTHU004589 http://purl.bioontology.org/ontology/OMIM/MTHU011667 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU012538 http://purl.bioontology.org/ontology/OMIM/MTHU002108 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU000394 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU002945 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU000710 http://purl.bioontology.org/ontology/OMIM/MTHU064175 http://purl.bioontology.org/ontology/OMIM/MTHU051708 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU066549 http://purl.bioontology.org/ontology/OMIM/MTHU001672 http://purl.bioontology.org/ontology/OMIM/MTHU076104 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU076103 http://purl.bioontology.org/ontology/OMIM/MTHU004222 See more See less
tui	T047
Gene Locus	17q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620001
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5774197
OMIM Entry Type	3
OMIM MimType Value	pound

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