Chromosome 2q24 Microdeletion Syndrome

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MESH via Orphanet 44 C538316 ICD10 via Orphanet 33 Q93.5 UMLS via Orphanet 72 C2931816

Orphanet 58 ORPHA1617 SNOMED-CT via HPO 68 128306009 128613002 193570009 194021007 202281000 204108000 205294008 22006008 228156007 246545002 246800008 247053007 247578003 267258002 276610007 276617005 313307000 32113001 36440009 432788009 444896005 59576002 61142002 63567004 84757009 87979003 91138005 91175000 92828000 93390002 95427009 more UMLS 71 C2931816

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1617 Definition 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures , microcephaly , dysmorphic features, cleft palate , eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism . Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 2q24 Microdeletion Syndrome, also known as 2q24 microdeletion syndrome, is related to hypotonia and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Chromosome 2q24 Microdeletion Syndrome is TBR1 (T-Box Brain Transcription Factor 1). Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and short neck

Search Clinical Trials , NIH Clinical Center for Chromosome 2q24 Microdeletion Syndrome

Search GEO for disease gene expression data for Chromosome 2q24 Microdeletion Syndrome.