cleft palate, proliferative retinopathy, and developmental delay
MONDO:0033641Mondo
Findings
No curated finding names cleft palate, proliferative retinopathy, and developmental delay yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- Atopic dermatitisHPOHP:0001047
- 2 of 2 reported patients
- Cleft palateHPOHP:0000175
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 3 of 3 reported patients · Congenital onset
- MyopiaHPOHP:0000545
- 3 of 3 reported patients
- Retinal neovascularizationHPOHP:0030666
- 3 of 3 reported patients
- Sleep apneaHPOHP:0010535
- 2 of 2 reported patients
- VentriculomegalyHPOHP:0002119
- 3 of 3 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 3 reported patients
Show the remaining 8
- Axial hypotoniaHPOHP:0008936
- 1 of 3 reported patients
- Cavum septum pellucidumHPOHP:0002389
- 1 of 3 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 3 reported patients
- Midface retrusionHPOHP:0011800
- 1 of 3 reported patients
- Partial agenesis of the corpus callosumHPOHP:0001338
- 1 of 3 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.
- LRRC32HGNC:4161
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: cleft palate, proliferative retinopathy, and developmental delay
- Also called
- CPPRDD