Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:10428
Name:SPECIFIC LANGUAGE IMPAIRMENT 2
Definition:
Alternative IDs:
ParentIDs:MESH:D007805
TreeNumbers:C10.597.606.150.500.550/606712 |C23.888.592.604.150.500.550/606712
Synonyms:SLI2 |SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: 606712
MeSH: 606712
OMIM: 606712;

Genes:
Phenotypes
1 HP:0002526Deficit in nonword repetition
2 HP:0002549Deficit in phonologic short-term memory
3 HP:0002474Expressive language delay
4 HP:0001425Heterogeneous
5 HP:0002463Language impairment
6 HP:0001426Multifactorial inheritance
Disease Causing ClinVar Variants