SPECIFIC LANGUAGE IMPAIRMENT 5

General Information (adopted from Orphanet):

Synonyms, Signs: SLI5
Number of Symptoms 8
OrphanetNr:
OMIM Id: 615432
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
2
(HPO:0002463) Language impairment 15 / 7739
3
(HPO:0000729) Autistic behavior 27 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Communication defects 2 / 7739
6
(OMIM) T2-weighted hyperintensities in the periventricular and deep subcortical white matter 1 / 7739
7
(OMIM) Early speech delay 1 / 7739
8
(HPO:0003829) Incomplete penetrance 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global ...
Clinical Description OMIM Wiszniewski et al. (2013) reported 15 probands with early language delay associated in most cases with cerebral T2-weighted white matter hyperintensities. All but 1 patient originated from Southeast Asia, mainly from Vietnam; 1 patient was reportedly of Hispanic ...
Molecular genetics OMIM In 15 probands with early language delay and white matter hyperintensities, Wiszniewski et al. (2013) identified a heterozygous 4-kb deletion at chromosome 2q36.3 that removed the penultimate exon 3 of the TM4SF20 gene (615404.0001). Sequencing revealed a complex ...