DISEASE: Intellectual developmental disorder with speech delay and dysmorphic facies
Entry
H02700 Disease
Name
Intellectual developmental disorder with speech delay and dysmorphic facies
Subgroup
IDD with impaired language and dysmorphic facies (IDDILF) IDD with speech delay, autism, and dysmorphic facies (IDDSADF) IDD with nasal speech, dysmorphic facies, and skeletal anomalies (IDNADFS)
Description
Intellectual developmental disorder (IDD) with speech delay and dysmorphic facies is a group of disorders characterized by speech difficulty and intellectual disability. It has been reported that mutations in genes encoding factors mediating mRNA decay are associated with intellectual disability.
Category
Mental and behavioural disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02700 Intellectual developmental disorder with speech delay and dysmorphic facies
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Bechec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A
Title
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marcais N, Peeters EAJ, Smithson S, Tomkins S, Tranmauthem F, Piton A, van Haeringen A
Title
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Niceta M, Pizzi S, Inzana F, Peron A, Bakhtiari S, Nizon M, Levy J, Mancini C, Cogne B, Radio FC, Agolini E, Cocciadiferro D, Novelli A, Salih MA, Recalcati MP, Arancio R, Besnard M, Tabet AC, Kruer MC, Priolo M, Dallapiccola B, Tartaglia M
Title
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
