Siddiqi syndrome
MONDO:0032842Mondo
Findings
No curated finding names Siddiqi 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
12 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.
- Delayed ability to walkHPOHP:0031936
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- IchthyosisHPOHP:0008064
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 5 of 5 reported patients · Infantile onset
- Flexion contractureHPOHP:0001371
- 3 of 5 reported patients
- Limb dystoniaHPOHP:0002451
- 3 of 5 reported patients
- Pes cavusHPOHP:0001761
- 3 of 5 reported patients
- SeizureHPOHP:0001250
- 1 of 5 reported patients
- Urinary incontinenceHPOHP:0000020
- 1 of 5 reported patients
- Developmental regressionHPOHP:0002376
- Lower limb amyotrophyHPOHP:0007210
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.
- FITM2HGNC:16135
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of