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Slowed slurred speech

MedGen UID:
870482
Concept ID:
C4024929
Finding
HPO: HP:0007164

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSlowed slurred speech

Conditions with this feature

Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
MedGen UID:
1808159
Concept ID:
C5676961
Disease or Syndrome
Autosomal recessive intellectual developmental disorder-75 with neuropsychiatric features and variant lissencephaly (MRT75) is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development. Most affected individuals have behavioral abnormalities, including aggression and ADHD; a few have psychiatric manifestations, including psychosis. More variable additional features include well-controlled seizures and dysmorphic facial features. Brain imaging often shows frontal predominant pachygyria or other gyri/sulci abnormalities, consistent with a variant of lissencephaly and a malformation of cortical development (MCD) (summary by Zaki et al., 2021).

Recent clinical studies

Etiology

Yu AC, Chan AY, Au WC, Shen Y, Chan TF, Chan HE
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001248. doi: 10.1101/mcs.a001248. PMID: 27900367Free PMC Article

Diagnosis

Yu AC, Chan AY, Au WC, Shen Y, Chan TF, Chan HE
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001248. doi: 10.1101/mcs.a001248. PMID: 27900367Free PMC Article
Dougherty M, Lazar J, Klein JC, Diaz K, Gobillot T, Grunblatt E, Hasle N, Lawrence D, Maurano M, Nelson M, Olson G, Srivatsan S, Shendure J, Keene CD, Bird T, Horwitz MS, Marshall DA
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001222. doi: 10.1101/mcs.a001222. PMID: 27900365Free PMC Article

Supplemental Content

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