Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome

MedGen UID:: 1660818
•Concept ID:: C4751568
•: Disease or Syndrome

Synonyms:	IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability; IQSEC2-related syndromic intellectual disability; Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome; Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
SNOMED CT:	IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability (774149004); IQSEC2-related syndromic intellectual disability (774149004); Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (774149004)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Orphanet:	ORPHA397933

Definition

A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioural disturbances, such as self-injury and unexplained crying episodes. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSevere intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome

Monogenic epilepsy
- Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome

Recent clinical studies

Diagnosis

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D
Eur J Hum Genet 2014 Feb;22(2):289-92. Epub 2013 May 15 doi: 10.1038/ejhg.2013.113. PMID: 23674175 Free PMC Article

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Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

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