loading...| Preferred Name |
intellectual developmental disorder with short stature and behavioral abnormalities |
| Synonyms |
IDDSSBA |
| Definitions |
A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111674 |
| database_cross_reference |
OMIM:618687 |
| definition |
A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. |
| has exact synonym |
IDDSSBA |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111674 |
| label |
intellectual developmental disorder with short stature and behavioral abnormalities |
| notation |
DOID:0111674 |
| prefLabel |
intellectual developmental disorder with short stature and behavioral abnormalities |
| subClassOf |