Al Kaissi syndrome
MONDO:0044324Mondo
Findings
No curated finding names Al Kaissi 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
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.
- Broad nasal tipHPOHP:0000455
- 9 of 9 reported patients
- Delayed ability to walkHPOHP:0031936
- 9 of 9 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- EpicanthusHPOHP:0000286
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 2 reported patients
- Long philtrumHPOHP:0000343
- 9 of 9 reported patients
- Low-set earsHPOHP:0000369
- 9 of 9 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 9 of 9 reported patients
- Postnatal growth retardationHPOHP:0008897
- 8 of 9 reported patients
- Short statureHPOHP:0004322
- 8 of 9 reported patients
Show the remaining 35
- Small handHPOHP:0200055
- 8 of 9 reported patients
- TelecanthusHPOHP:0000506
- 7 of 9 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 6 of 9 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 9 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 5 of 9 reported patients
- Sacral dimpleHPOHP:0000960
- 5 of 9 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.
- CDK10HGNC:1770
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Limited · G2P · Autosomal recessive · 2024