ORPHA:615983

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
fr	Syndrome létal d'hypoplasie pontocérébelleuse-hypotonie-insuffisance respiratoire dû à une mutation ponctuelle
de	Syndrom der letalen pontozerebellären Hypoplasie mit Hypotonie und respiratorischer Insuffizienz durch Punktmutation
es	Síndrome letal de hipoplasia pontocerebelosa-hipotonía-insuficiencia respiratoria por una mutación puntual
it	Sindrome letale da ipoplasia pontocerebellare, ipotonia e insufficienza respiratoria causata da una mutazione puntiforme
nl	Letaal pontocerebellaire hypoplasie - hypotonie - respiratoire insufficiëntie-syndroom door een puntmutatie
pt	Síndrome letal de hipoplasia pontocerebelosa-hipotonia-insuficiência respiratória por mutação pontual
pl	Zespół letalna hipoplazja mostowo-móżdżkowa-hipotonia-niewydolność oddechowa wskutek mutacji punktowej
cs	Syndrom zahrnující letální pontocerebelární hypoplázii, hypotonii a respirační insuficienci způsobený bodovou mutací
uk	Летальний синдром понтоцеребелярної гіпоплазії-гіпотонії-дихальної недостатності, зумовлений точковою мутацією

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618810	NTBT		validated
ICD-10	Q04.8	NTBT	attributed	validated
ICD-11	LD20.0Y	NTBT	attributed	validated
MONDO	0036217	E		validated
UMLS	C5681819	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:615954Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ATAD3A	Disease-causing germline mutation(s) in	Assessed	HGNC:25567	ENSG00000197785	612316	1p36.33	ATPase family AAA domain containing 3A	28549128[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.