Catifa syndrome
MONDO:0032901Mondo
Findings
No curated finding names Catifa syndrome 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
22 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.
- Developmental cataractHPOHP:0000519
- 2 of 2 reported patients · Congenital onset
- 7 of 8 reported patients
- Gait disturbanceHPOHP:0001288
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 7 of 8 reported patients
- Long faceHPOHP:0000276
- 6 of 8 reported patients
- Anteverted naresHPOHP:0000463
- 5 of 8 reported patients
- AsthmaHPOHP:0002099
- 5 of 8 reported patients
- Cleft lipHPOHP:0410030
- 5 of 8 reported patients
- MicrotiaHPOHP:0008551
- 5 of 8 reported patients
- StrabismusHPOHP:0000486
- 5 of 8 reported patients
- EpicanthusHPOHP:0000286
- 4 of 8 reported patients
Show the remaining 10
- Mild microcephalyHPOHP:0040196
- 4 of 8 reported patients
- Tooth malpositionHPOHP:0000692
- 4 of 8 reported patients
- AmblyopiaHPOHP:0000646
- 3 of 8 reported patients
- Cleft palateHPOHP:0000175
- 3 of 8 reported patients
- Delayed eruption of teethHPOHP:0000684
- 3 of 8 reported patients
- Long philtrumHPOHP:0000343
- 3 of 8 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.
- RIC1HGNC:17686
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of