loading...| Preferred Name |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES |
| Synonyms |
IDDSSBA |
| ID |
http://purl.bioontology.org/ontology/OMIM/618687 |
| altLabel |
IDDSSBA |
| cui |
C5231462 |
| Gene Locus |
3p25.2 |
| Gene Symbol |
KIAA0763 IDDSSBA IQSEC1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU000302 http://purl.bioontology.org/ontology/OMIM/MTHU051708 http://purl.bioontology.org/ontology/OMIM/MTHU002478 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU008056 http://purl.bioontology.org/ontology/OMIM/MTHU058757 http://purl.bioontology.org/ontology/OMIM/MTHU003629 http://purl.bioontology.org/ontology/OMIM/MTHU028611 http://purl.bioontology.org/ontology/OMIM/MTHU000554 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU064174 http://purl.bioontology.org/ontology/OMIM/MTHU033932 http://purl.bioontology.org/ontology/OMIM/MTHU024399 http://purl.bioontology.org/ontology/OMIM/MTHU036555 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
618687 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES |
| Scope Statement |
Onset in infancy [MISCELLANEOUS] Caused by mutation in the IQ motif- and SEC7 domain-containing protein 1 gene (IQSEC1, 610166.0001) [MOLECULAR BASIS] Seizure onset in early infancy (family B) [MISCELLANEOUS] Two unrelated consanguineous families have been reported (last curated December 2019) [MISCELLANEOUS] |
| tui |
T047 |