Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/621102
http://purl.bioontology.org/ontology/OMIM/621102
Preferred Name

NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES
Synonyms
NEDPSB
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NEDPSB
prefLabel
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES
Gene Symbol
SELB
EEFSEC
NEDPSB
EFSEC
Scope Statement
Caused by mutation in the eukaryotic elongation factor, selenocysteine-tRNA-specific gene (EEFSEC, 607695.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
Progressive disorder, suggestive of a neurodegenerative process [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000629
http://purl.bioontology.org/ontology/OMIM/MTHU001763
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU051207
http://purl.bioontology.org/ontology/OMIM/MTHU000474
http://purl.bioontology.org/ontology/OMIM/MTHU079652
http://purl.bioontology.org/ontology/OMIM/MTHU036555
http://purl.bioontology.org/ontology/OMIM/MTHU004041
http://purl.bioontology.org/ontology/OMIM/MTHU062917
http://purl.bioontology.org/ontology/OMIM/MTHU036543
http://purl.bioontology.org/ontology/OMIM/MTHU008643
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU020425
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU033304
http://purl.bioontology.org/ontology/OMIM/MTHU000848
http://purl.bioontology.org/ontology/OMIM/MTHU063758
http://purl.bioontology.org/ontology/OMIM/MTHU038079
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU079650
http://purl.bioontology.org/ontology/OMIM/MTHU042433
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU079649
http://purl.bioontology.org/ontology/OMIM/MTHU004124
http://purl.bioontology.org/ontology/OMIM/MTHU071555
http://purl.bioontology.org/ontology/OMIM/MTHU037147
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU036443
http://purl.bioontology.org/ontology/OMIM/MTHU001148
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU004589
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU036337
http://purl.bioontology.org/ontology/OMIM/MTHU000749
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU000282
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU011317
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU000710
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU025802
http://purl.bioontology.org/ontology/OMIM/MTHU051708
http://purl.bioontology.org/ontology/OMIM/MTHU003860
http://purl.bioontology.org/ontology/OMIM/MTHU007970
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU033528
http://purl.bioontology.org/ontology/OMIM/MTHU079651
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU079648
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU011714
http://purl.bioontology.org/ontology/OMIM/MTHU021249
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tui
T047
Gene Locus
3q21.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
621102
Semantic type UMLS property
Has inheritance type
cui
C6012700
OMIM Entry Type
3
OMIM MimType Value
pound
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