orofaciodigital syndrome 21
MONDO:0975827Mondo
Findings
No curated finding names orofaciodigital syndrome 21 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Fetal onset · Second trimester onset
HPO, annotations 2026-09-02
Features
88 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 1 of 1 reported patient
- Absent pituitary stalkHPOHP:0034976
- 3 of 3 reported patients
- Alobar holoprosencephalyHPOHP:0006988
- 1 of 1 reported patient
- Anterior pituitary agenesisHPOHP:0010626
- 1 of 1 reported patient
- Anterior pituitary hypoplasiaHPOHP:0010627
- 2 of 2 reported patients
- Delayed ability to crawlHPOHP:0033128
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Ectopic posterior pituitaryHPOHP:0011755
- 4 of 4 reported patients
- Empty sella turcicaHPOHP:6000483
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HoloprosencephalyHPOHP:0001360
- 2 of 2 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 1 reported patient
Show the remaining 76
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- Mild fetal ventriculomegalyHPOHP:0010952
- 2 of 2 reported patients
- PolymicrogyriaHPOHP:0002126
- 1 of 1 reported patient
- Postaxial hand polydactylyHPOHP:0001162
- 7 of 7 reported patients
- Small pituitary glandHPOHP:0012506
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZRSR2HGNC:23019
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of