genitourinary and/or brain malformation syndrome
MONDO:0032934Mondo
Findings
No curated finding names genitourinary and/or brain malformation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
47 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.
- HypospadiasHPOHP:0000047
- 4 of 4 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 4 reported patients · Male
- Global developmental delayHPOHP:0001263
- 7 of 12 reported patients
- ChordeeHPOHP:0000041
- 2 of 4 reported patients · Male
- MicropenisHPOHP:0000054
- 1 of 4 reported patients · Male
- Streak ovaryHPOHP:0010464
- 2 of 8 reported patients · Female
- Urogenital sinus anomalyHPOHP:0100779
- 2 of 8 reported patients · Female
- HoloprosencephalyHPOHP:0001360
- 2 of 12 reported patients
- HypertelorismHPOHP:0000316
- 2 of 12 reported patients
- StrabismusHPOHP:0000486
- 2 of 12 reported patients
- Clitoral hypertrophyHPOHP:0008665
- 1 of 8 reported patients · Female
- Uterus didelphysHPOHP:0003762
- 1 of 8 reported patients · Female
Show the remaining 35
- Abnormality of the outer earHPOHP:0000356
- 1 of 12 reported patients
- Absent septum pellucidumHPOHP:0001331
- 1 of 12 reported patients
- AcraniaHPOHP:0030716
- 1 of 12 reported patients · Fetal onset
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 12 reported patients
- Aplasia of the nasal boneHPOHP:0010941
- 1 of 12 reported patients
- AstigmatismHPOHP:0000483
- 1 of 12 reported patients
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.
- PPP1R12AHGNC:7618
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · ClinGen · Autosomal dominant · 2021
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: genitourinary and/or brain malformation syndrome
- Also called
- genitourinary and/or/brain malformation syndromeGUB syndromeUBM syndromeUBMSUrogenital and/or brain malformation syndrome