Distal 7q11.23 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Distal monosomy 7q11.23
Distal del(7)(q11.23)
DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
Number of Symptoms 12
OrphanetNr: 254351
OMIM Id: 613729
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 7
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
2
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
3
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
4
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
5
 (HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
6
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
7
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
8
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
9
 (HPO:0002132) Porencephaly Occasional [Orphanet] 18 / 7739
10
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
11
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
12
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hemizygous 1.2-Mb deletion of the distal region of chromosome 7q11.23 is associated with increased risk for epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities (Ramocki et al., 2010).
Clinical Description OMIM Ramocki et al. (2010) identified 26 individuals from 10 unrelated families with variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities associated with hemizygous genomic deletions of distal chromosome 7q11.23. Epilepsy was common ...
Molecular genetics OMIM Ramocki et al. (2010) found distal chromosome 7q11.23 deletions that mapped between the WBS critical region and the MAGI2 gene (606382), ranging in size from 180 kb to 4 Mb, in 26 individuals from 10 unrelated families out ...