KEGG DISEASE: Parenti-Mignot neurodevelopmental syndrome

KEGG

DISEASE: Parenti-Mignot neurodevelopmental syndrome

Entry

H02615                      Disease

Name

Parenti-Mignot neurodevelopmental syndrome

Description

Parenti-Mignot neurodevelopmental syndrome (PMNDS) is a neurodevelopmental syndrome characterized by intellectual disability, speech delay, motor delay, behavioral problems, and epilepsy. It has been reported that missense and truncating variants in CHD5 cause this disease. CHD5 belongs to a highly conserved family of genes encoding ATP-dependent chromatin remodeling complex subunits.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02615 Parenti-Mignot neurodevelopmental syndrome

Gene

CHD5 [HSA:26038] [KO:K14435]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Parenti I, Lehalle D, Nava C, Torti E, Leitao E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C

Title

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Journal

Hum Genet 140:1109-1120 (2021)
DOI:10.1007/s00439-021-02283-2

LinkDB

» Japanese version

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