Article

MED13L-related disorder characterized by severe motor speech impairment

2024-08-28

Abstract excerpt

<title>Abstract</title> <p>Background <italic>MED13L</italic>-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses and results of direct testing has been published to date. We conducted deep phenotyping to characterize the speech, langu...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5ac25041-45b9-5d54-888d-63135e73e127
DOI: 10.21203/rs.3.rs-4790993/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

MED13L-related disorder characterized by severe motor speech impairmentDOI 10.21203/rs.3.rs-4790993/v1Read

CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel casesSemantic proximity Read

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel featureSemantic proximity Read

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.Semantic proximity Read

Childhood motor speech disorders: who to prioritise for genetic testingSemantic proximity Read

CLCN4 -Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities.Semantic proximity Read

Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome.Semantic proximity Read

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.Semantic proximity Read

Speech and language deficits are central to SETBP1 haploinsufficiency disorder.Semantic proximity Read

The clinical and genetic spectrum of paediatric speech and language disorders.Semantic proximity Read

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.Semantic proximity Read

The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individualsSemantic proximity Read

Feature-driven classification reveals potential comorbid subtypes within childhood apraxia of speechSemantic proximity Read