cerebellar, ocular, craniofacial, and genital syndrome
MONDO:0032774Mondo
Findings
No curated finding names cerebellar, ocular, craniofacial, and genital syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- Absent scrotumHPOHP:0008707
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- BuphthalmosHPOHP:0000557
- 1 of 1 reported patient
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HirsutismHPOHP:0001007
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Low anterior hairlineHPOHP:0000294
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- SynophrysHPOHP:0000664
- 1 of 1 reported patient
Show the remaining 1
- Tented philtrumHPOHP:0011825
- 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.
- MAB21L1HGNC:6757
- Definitive · G2P · Autosomal recessive · 2019
- Strong · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of