| H00969 | |
| H number | H00969 |
| Name | Skeletal defects, genital hypoplasia, and mental retardation |
| Description | This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia. |
| Category | Congenital malformation |
| Network | - |
| Gene | ZBTB16 [HSA:7704] [KO:K10055] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.Y MeSH: C567306 OMIM: 612447 |
| Reference | PMID:18611983 AUTHORS Fischer S, Kohlhase J, Bohm D, Schweiger B, Hoffmann D, Heitmann M, Horsthemke B, Wieczorek D TITLE Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia. JOURNAL J Med Genet 45:731-7 (2008) DOI:10.1136/jmg.2008.059451 |