Online Mendelian Inheritance in Man - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620029 http://purl.bioontology.org/ontology/OMIM/620029
Preferred Name	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
Synonyms	NEDHLSS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEDHLSS
prefLabel	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
Gene Symbol	CCHL1A1 TS CACNA1C CACNL1A1 NEDHLSS LQT8 See more See less
Scope Statement	Most mutations occur de novo [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the calcium channel, voltage-dependent, L type, alpha-1C subunit gene (CACNA1C, 114205.0011) [MOLECULAR BASIS] Highly variable phenotype [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU047747 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU003335 http://purl.bioontology.org/ontology/OMIM/MTHU036341 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU036505 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU068101 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU037147 http://purl.bioontology.org/ontology/OMIM/MTHU004643 http://purl.bioontology.org/ontology/OMIM/MTHU002478 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU031116 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU012538 http://purl.bioontology.org/ontology/OMIM/MTHU005933 http://purl.bioontology.org/ontology/OMIM/MTHU039557 http://purl.bioontology.org/ontology/OMIM/MTHU002160 http://purl.bioontology.org/ontology/OMIM/MTHU037794 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU000394 http://purl.bioontology.org/ontology/OMIM/MTHU064849 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU000074 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU036440 http://purl.bioontology.org/ontology/OMIM/MTHU042911 http://purl.bioontology.org/ontology/OMIM/MTHU076223 http://purl.bioontology.org/ontology/OMIM/MTHU007034 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU076224 http://purl.bioontology.org/ontology/OMIM/MTHU011134 http://purl.bioontology.org/ontology/OMIM/MTHU011174 http://purl.bioontology.org/ontology/OMIM/MTHU031185 http://purl.bioontology.org/ontology/OMIM/MTHU003629 http://purl.bioontology.org/ontology/OMIM/MTHU044941 See more See less
tui	T047
Gene Locus	12p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620029
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5774213
OMIM Entry Type	3
OMIM MimType Value	pound

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