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

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620023 http://purl.bioontology.org/ontology/OMIM/620023
Preferred Name	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
Synonyms	NEDMIMS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEDMIMS
prefLabel	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
Gene Symbol	NEDMIMS CHK CHKA
Scope Statement	Caused by mutation in the choline kinase, alpha gene (CHKA, 118491.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001739 http://purl.bioontology.org/ontology/OMIM/MTHU047747 http://purl.bioontology.org/ontology/OMIM/MTHU070817 http://purl.bioontology.org/ontology/OMIM/MTHU039441 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU068118 http://purl.bioontology.org/ontology/OMIM/MTHU001903 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU012538 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU062534 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU000301 http://purl.bioontology.org/ontology/OMIM/MTHU028611 http://purl.bioontology.org/ontology/OMIM/MTHU042911 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU066651 http://purl.bioontology.org/ontology/OMIM/MTHU037057 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU074896 http://purl.bioontology.org/ontology/OMIM/MTHU003629 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU040091 See more See less
tui	T047
Gene Locus	11q13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620023
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5774208
OMIM Entry Type	3
OMIM MimType Value	pound

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