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

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620024 http://purl.bioontology.org/ontology/OMIM/620024
Preferred Name	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
Synonyms	NEDSMBA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEDSMBA
prefLabel	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
Gene Symbol	NEDSMBA PPFIBP1
Scope Statement	Global developmental delay/intellectual disability and epilepsy seen in all patients MOLECULAR BASIS Caused by mutation in PFIA-binding protein 1 gene (PPFIBP1, 603141.0001) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001605 http://purl.bioontology.org/ontology/OMIM/MTHU010663 http://purl.bioontology.org/ontology/OMIM/MTHU005726 http://purl.bioontology.org/ontology/OMIM/MTHU036336 http://purl.bioontology.org/ontology/OMIM/MTHU000253 http://purl.bioontology.org/ontology/OMIM/MTHU032019 http://purl.bioontology.org/ontology/OMIM/MTHU000607 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU006809 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU036616 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU001601 http://purl.bioontology.org/ontology/OMIM/MTHU005348 http://purl.bioontology.org/ontology/OMIM/MTHU036446 http://purl.bioontology.org/ontology/OMIM/MTHU007254 http://purl.bioontology.org/ontology/OMIM/MTHU072943 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU047926 http://purl.bioontology.org/ontology/OMIM/MTHU013668 http://purl.bioontology.org/ontology/OMIM/MTHU047775 http://purl.bioontology.org/ontology/OMIM/MTHU002761 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU076211 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU076214 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU040979 http://purl.bioontology.org/ontology/OMIM/MTHU076213 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU076212 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU009421 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	12p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620024
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5774209
OMIM Entry Type	3
OMIM MimType Value	pound

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